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List of works by Corrado Angelini

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

scientific article

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

article

A childhood case of hypokalemic periodic paralysis

scientific article published on 01 April 1984

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

scientific article published on 01 September 2000

A new family with transportinopathy: increased clinical heterogeneity

scientific article published on 09 June 2019

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation

scientific article published in April 2001

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

scientific article published in 2022

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

scientific article

A novel laminin 2 isoform in severe laminin 2 deficient congenital muscular dystrophy

article

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

scientific article published on 15 January 2005

A pilot trial with clenbuterol in amyotrophic lateral sclerosis

scientific article published on 01 December 2006

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010

A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron

scientific article published on 01 July 1994

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

scientific article published on February 2007

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

scientific article published on 01 June 2011

ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities

scientific article

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

scientific article

Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease

scientific article published on 01 May 1980

Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients

scientific article published in May 1994

Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients

scientific article published on 01 April 2007

Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients

scientific article published on 01 November 1972

Advances in imaging of brain abnormalities in neuromuscular disease

scientific article published on 06 May 2019

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy

scientific article published on 17 January 2014

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

scientific article published on 9 April 2012

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells ⬇️

scientific article published on May 31, 2012

Assessment of the value of thymic scan in myasthenia gravis

scientific article published on January 1979

Association between human polymorphic DNA markers and hypoxia adaptation in Sherpa detected by a preliminary genome scan

scientific article published on 15 March 2007

Atrio-ventricular conduction system in myotonic dystrophy: value of electrophysiological investigation

scientific article published on 01 April 1981

Authors' reply

scientific article published on 23 September 2019

Autoimmune neuromuscular disease induced by a preparation of choline acetyltransferase

scientific article published in January 1982

Autonomic regulation in muscular dystrophy

scientific article published on 20 September 2013

Autophagy dysregulation in Danon disease.

scientific article published on 19 January 2017

Autophagy in Natural History and After ERT in Glycogenosis Type II.

scientific article published on 25 February 2015

Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract

scientific article published on 01 July 1976

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

scientific article

Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.

scientific article

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

scientific article published on 11 March 2010

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

scientific article published on 22 April 2015

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

scientific article published on 10 January 2012

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

scientific article

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

scientific article published on 01 March 1999

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

scientific article published on 01 March 2001

Calpainopathy

scientific article published on 3 August 2017

Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series

scientific article published on 20 February 2020

Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

scientific article published on 01 October 1996

Cardiac involvement in Becker muscular dystrophy

scientific article

Cardioembolic stroke in Danon disease

scientific article published on 26 February 2008

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

scientific article

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome ⬇️

scientific article published on March 2, 1973

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

scientific article published on 01 January 1984

Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy

scientific article published on 01 August 1981

Carnitine deficiency of skeletal muscle: report of a treated case

scientific article published on 01 July 1976

Carnitine deficiency, organic acidemias, and Reye's syndrome

scientific article

Carnitine deficiency: acute postpartum crisis

scientific article

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance

scientific article published in July 1981

Carnitine, carnitine acyltransferases, and rat brain function.

scientific article

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

scientific article

Cerebellar ataxia and coenzyme Q10 deficiency

scientific article published in April 2003

Cerebral venous thrombosis at high altitude: A systematic review

scientific article published on 27 December 2016

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine

scientific article published in September 1997

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

scientific article

Chapter 31: muscular dystrophy

scientific article published on January 2010

Childhood dermatomyositis associated with intracranial tumor and liver cysts

scientific article published on 28 December 2006

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

scientific article published in August 1986

Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS

scientific article published on 01 January 2016

Clinical and genetic characterization of Chanarin–Dorfman syndrome

scientific article published in 2008

Clinical and genetic characterization of an Italian family with slow-channel syndrome

scientific article published on 12 December 2018

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

scientific article published on 10 April 2015

Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy.

scientific article published in February 1996

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

scientific article published on 26 September 2011

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

scientific article

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

scientific article published on 17 October 2012

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

scientific article published in February 2003

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

scientific article

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

scientific article

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

scientific article published on 30 April 2013

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

scientific article

Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes

scientific article published on 01 July 1994

Co-segregation of LMNA and PMP22 gene mutations in the same family

article

Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy

scientific article published on 01 February 1992

Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

scientific article published on 01 August 1999

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.

scientific article published on 4 February 2011

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

scientific article published on 01 April 1972

Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2).

scientific article published on 27 March 2009

Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies.

scientific article

Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy

scientific article published in July 1998

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

scientific article published in March 2006

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

scientific article published on January 1995

Correlation between clinical and molecular features in two MELAS families

scientific article

Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy

scientific article published on 01 January 2000

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

scientific article published on 25 May 2007

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

scientific article published on 8 February 2017

Could utrophin rescue the myocardium of patients with dystrophin gene mutations?

scientific article published on 01 August 1999

Cross-reactive protein in Duchenne muscle

scientific article published on 01 November 1989

Decorin and biglycan expression is differentially altered in several muscular dystrophies

scientific article published on 23 September 2005

Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

article

Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3.

scientific article published in December 2003

Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes

scientific article (publication date: June 2002)

Defects of fatty-acid oxidation in muscle

scientific article published on September 1990

Deflazacort in Duchenne dystrophy: study of long-term effect

scientific article published on 01 April 1994

Detection of HTLV-I tax-rex and pol gene sequences of thymus gland in a large group of patients with myasthenia gravis

scientific article published in March 2002

Developmental patterns of LDH isozymes in fast and slow muscles of the rat

scientific article published on 01 November 1970

Diagnosis and management of autoimmune myasthenia gravis

scientific article published on January 2011

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.

scientific article published on December 2011

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

scientific article

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

scientific article published on 01 March 1995

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

scientific article published on 01 August 1996

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.

scientific article published on 4 April 2016

Disorders of lipid metabolism

scientific article published on 01 January 2007

Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

scientific article published on 4 September 2012

Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene

scientific article published in 2022

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

scientific article published on 10 October 2013

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up

scientific article published on 01 January 1995

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

scientific article

Dominant muscular dystrophy with a novelSYNE1gene mutation

article

Duchenne muscular dystrophy. A population study

scientific article published in February 1977

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

scientific article published in September 1996

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

scientific article published in October 2004

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

scientific article

Dysferlinopathy course and sportive activity: clues for possible treatment

scientific article published on October 2011

Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course

scientific article published on 01 October 1995

Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

scientific article published on 01 March 1993

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

scientific article published on 5 April 2010

EFNS review on the role of muscle biopsy in the investigation of myalgia.

scientific article published on 30 April 2013

Early ultrastructural and biochemical changes in muscle in dystrophia myotonica

scientific article published on 01 June 1970

Echocardiographic and pulsed Doppler features in glycogen storage disease type II of the heart (Pompe's disease)

scientific article published on 01 January 1991

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study

scientific article

Elevated Expression of Moesin in Muscular Dystrophies

scientific article published on 9 January 2017

Enormous dystrophin in a patient with Becker muscular dystrophy

scientific article published in May 1990

Enzyme replacement therapy for Pompe disease.

scientific article published on February 2012

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

scientific article published on 10 July 2013

Epidemiology of ALS in Padova district, Italy, from 1992 to 2005.

scientific article

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population ⬇️

scientific article published on January 1, 1992

Epidemiology of motor neuron disease in north-east Veneto region: Venice, Padua, and Belluno Provinces (1972-1981)

scientific article published on 01 January 1987

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Esophageal motor function in patients with myotonic dystrophy

scientific article published on 01 October 1996

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

scientific article published on 29 May 2013

Evolution of cardiac involvement in progressive ophthalmoplegia with deleted mitochondrial DNA

scientific article published on 01 January 1990

Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients

scientific article

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

scientific article published in August 2006

Expression profiling characterization of laminin α-2 positive MDC

scientific article published on 25 September 2006

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

scientific article

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

scientific article published on 22 August 2007

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

scientific article published on 23 March 2009

Familial ALS: clinical, genetic and morphological features

scientific article published on 01 January 1987

Familial neuromuscular disease with tubular aggregates

scientific article published in May 1985

Familial polyglucosan body myopathy with unusual phenotype

scientific article published on 01 April 2015

Fatal lipid storage with abnormal mitochondria in an infant

scientific article published on 01 January 1981

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

scientific article published on December 2012

Fatigue in muscular dystrophies

scientific article published on December 2012

Fingerprint body myopathy, a newly recognized congenital muscle disease

scientific article published on 01 June 1972

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

scientific article published in April 2009

Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1

scientific article published on 01 January 1995

Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption

scientific article published on 01 January 1987

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

scientific article published on September 2016

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

scientific article published on November 1992

GYG1 gene mutations in a family with polyglucosan body myopathy

scientific article published on 24 September 2015

Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients

scientific article published in May 2014

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

scientific article

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

scientific article

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

scientific article

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

scientific article published on 01 March 1996

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

scientific article published in December 1997

Genetic epidemiology of myotonic dystrophy

scientific article published on 01 January 1987

Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis

scientific article published on 09 June 2011

Genotype-phenotype correlation in Pompe disease, a step forward.

scientific article

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

scientific article published on 31 August 2010

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

scientific article published on 01 January 1997

Geographic distribution of hereditary myopathies in northeast Italy

scientific article published on 01 January 1974

Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency

scientific article published in September 1987

Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study

scientific article published on 01 December 1980

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

scientific article published on 01 April 1999

Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage study

scientific article published on 01 January 1988

High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm.

scientific article published on November 2006

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

scientific article published on 15 October 2008

Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

scientific article

Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect

scientific article published on 01 January 1993

I-1History of Myology in Italy and its internationalcollections.

scientific article published in October 2011

I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acid maltase deficiency myopathy.

scientific article published in October 2011

I-5. Mitochondrial disorders of the nuclear genome

scientific article published in July 2009

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

scientific article published on 31 March 2016

Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

scientific article published on 02 May 2015

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

scientific article published on 31 August 2012

Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy

scientific article published on December 2014

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

scientific article published on 01 August 1989

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

scientific article

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Increased aldosterone levels in acute mountain sickness at Capanna Regina Margherita

scientific article published on 01 November 1997

Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study

scientific article published on 01 April 1988

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

scientific article published in August 2005

Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro

scientific article published on 01 July 1999

Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy.

scientific article

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

scientific article

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

scientific article published on June 2002

Intellectual impairment and cognitive evoked potentials in myotonic dystrophy

scientific article published on 01 December 1989

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

scientific article published on 24 January 2006

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

scientific article published in November 2002

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy ⬇️

scientific article published on October 1, 1991

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

scientific article published on 30 March 2010

L-carnitine uptake in differentiating human cultured muscle

scientific article

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

scientific article published on 01 September 2004

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

scientific article published on 10 December 2015

LGMD2E patients risk developing dilated cardiomyopathy

scientific article published on 01 May 2003

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

scientific article

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

scientific article

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

scientific article published in April 2004

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Late-onset GSDII with novel GAA gene mutation

scientific article published on 01 April 2007

Letter: Carnitine deficiency ⬇️

scientific article published on September 20, 1975

Letter: Duchenne carrier detection

scientific article

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

scientific article

Lipid storage myopathies. A review of metabolic defect and of treatment

scientific article published on November 1976

Lipolysis and lipophagy in lipid storage myopathies.

scientific article published on 13 April 2016

Liver fatty acid-binding protein in two cases of human lipid storage

scientific article

Long-term cyclosporine treatment in a group of severe myasthenia gravis patients

scientific article published on 01 September 1997

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

scientific article published on 10 September 2010

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

scientific article published in November 2003

MELAS: clinical features, biochemistry, and molecular genetics

scientific article published on April 1, 1992

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

scientific article published on 22 February 2010

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

scientific article published on 01 May 1994

Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency

scientific article published on January 1986

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

Memory deficits and retrieval processes in ALS.

scientific article published on May 2003

Metabolic lipid muscle disorders: biomarkers and treatment

scientific article published on 22 April 2019

Metabolic myopathies: the challenge of new treatments

scientific article published on 29 March 2010

MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

scientific article published on 18 September 2020

Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1.

scientific article published on 11 January 2017

Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration.

scientific article published on 6 July 2017

MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

scientific article published on August 2016

Microglia polarization by mitochondrial metabolism modulation: A therapeutic opportunity in neurodegenerative diseases

scientific article published on 19 September 2018

Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy

scientific article published on 01 September 1973

Mitochondria-lipid-glycogen (MLG) disease of muscle: a morphologically regressive congenital myopathy

scientific article

Molecular and muscle pathology in a series of caveolinopathy patients

scientific article

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

scientific article published on 01 April 1996

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

scientific article

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

scientific article published on 01 February 2008

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation

scientific article published on 01 December 2003

Motor function-muscle strength relationship in spinal muscular atrophy

Motor neuron disease in the Padua district of Italy: an epidemiological study

scientific article published in January 1996

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

scientific article published on May 1995

Multicenter trial with ubidecarenone: treatment of 44 patients with mitochondrial myopathies

scientific article

Multifactorial study of inflammatory myopathies. Report of 29 cases

scientific article published on 01 January 1993

Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction

scientific article published on 01 March 2000

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

scientific article published in January 1980

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

scientific article published in December 2013

Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy

scientific article

Muscle carnitine deficiency in patients with severe peripheral vascular disease

scientific article published on 01 October 1991

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

scientific article published on May 2015

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy

scientific article

Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency

scientific article published in April 1989

Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR.

scientific article

Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis

scientific article published in October 2008

Muscle pathology in dysferlin deficiency

scientific article published on 01 December 2002

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E

scientific article published on 23 August 2006

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

scientific article published on 27 April 2011

Mutations in the sarcoglycan genes in patients with myopathy

scientific article

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

scientific article published on 01 December 1996

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

scientific article published in March 1984

MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy

scientific article published on 29 April 2020

Myopathological findings in progressive myoclonus epilepsy

scientific article published on 01 January 1981

Myopathy with tubular aggregates and hypertrophic cardiomyopathy in a patient with type IIA von Willebrand disease

scientific article published on 01 January 1996

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

scientific article published on 01 January 1995

Myosin heavy chain composition of muscle fibers in spinal muscular atrophy

scientific article published in January 1989

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

scientific article published on 01 October 1996

Myotonic dystrophy and chromosome translocation segregating in the same family

scientific article published on 01 January 1987

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

article

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

scientific article

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

scientific article

Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents

scientific article published on 01 January 2000

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy

scientific article published on 16 December 2015

Neuromuscular diseases: advances in therapy and diagnosis ⬇️

scientific article published on 01 January 2012

New Pathogenetic Mechanisms that Link Autophagy to Pompe Disease

scientific article

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

scientific article published on June 2012

New therapies in muscular dystrophies.

scientific article published in January 2000

New treatments for myasthenia: a focus on antisense oligonucleotides

scientific article published on 10 January 2013

Next generation sequencing detection of late onset pompe disease

scientific article published on 21 January 2016

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

scientific article published in 2013

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

scientific article published on November 1994

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

scientific article published on 30 April 2010

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

scientific article published on 2 May 2015

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

article

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

scientific article

Novel spastin mutations and their expression analysis in two Italian families

scientific article published in September 2003

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

scientific article published on 14 February 2006

O-3Clinical features and outcome measures during1 year enzyme replacement therapy in late onset GSD II patients.

scientific article published in October 2011

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

scientific article published on 12 November 2011

Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

scientific article published on 01 March 1994

Oculo cranio-somatic syndrome: mitochondrial alterations and lactic acidemia

scientific article published on February 1979

Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy

scientific article

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

scientific article published on 9 August 2011

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

scientific article

P-1Prognostic factors and course of myastheniagravis.

scientific article published in October 2011

P-2Two sisters with muscle lipid storage andcarnitine deficiency in muscle and plasma.

scientific article published in October 2011

P-4Evaluating therapy outcome in MystheniaGravis.

scientific article published in October 2011

P-9Construction of a database for a nation-wideItalian collaborative network of mitochondrial diseases.

scientific article published in October 2011

Parkinson-like features in ALS with predominant upper motor neuron involvement

scientific article published on 28 August 2011

Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy

scientific article published on 01 January 1981

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

scientific article published on 3 May 2013

Plasma and urine carnitine levels during development

scientific article published on 01 December 1980

Polyneuropathies due to adhesives. Histopathological and ultrastructural studies

scientific article published in January 1976

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

scientific article

Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

scientific article published on 01 April 1998

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

scientific article published on 01 June 1995

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

scientific article published on 01 November 1996

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy

scientific article published on 01 July 1999

Prenatal diagnosis in congenital muscular dystrophy

scientific article published on 01 March 1995

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

scientific article

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

scientific article

Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients

scientific article published on January 1992

Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery

scientific article published in January 1995

Prevalent cardiac involvement in dystrophin Becker type mutation

scientific article published on 01 July 1994

Prevention of cardiomyopathy in Duchenne muscular dystrophy

scientific article published on 30 December 2014

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

scientific article published on 7 January 2015

Proceedings of the XI Congressof the Italian Associationof Myology Cagliari, May 2011: LGMD 1(F) - A pathogenetic hypothesis based on histopathology and ultrastructure.

scientific article published in October 2011

Prognostic factors in mild dystrophinopathies

scientific article published on 01 October 1996

Progress and challenges in diagnosis of dysferlinopathy

scientific article

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

scientific article published on May 2009

Progressive supranuclear palsy: report of two cases (author's transl).

scientific article

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

scientific article published on 29 May 2015

Psychiatric disturbances associated with myasthenia gravis ⬇️

scientific article published on April 1, 1988

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

scientific article

Psychological aspects of neuromuscular diseases

scientific article published in August 1986

Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients.

scientific article published on 3 June 2010

Quality of life and motor impairment in ALS: Italian validation of ALSAQ.

scientific article

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

scientific article published on April 1997

Radiological evidence of subclinical dysphagia in motor neuron disease

scientific article published on 01 April 1998

Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis

scientific article published on 01 January 1993

Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

scientific article published on 01 December 2008

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

scientific article published in January 2013

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

scientific article

Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins

scientific article published on June 1999

Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1

scientific article published on 15 June 2016

Relationship of serum enzyme changes to muscle damage in vitamin E deficiency of the rabbit

scientific article published on 01 September 1968

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Reply

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

scientific article published on 01 March 1996

Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

scientific article published on 15 September 2010

Review: Danon disease: Review of natural history and recent advances

scientific article published on 07 November 2019

Riboflavin therapy

scientific article published on 01 December 1999

Right hemisphere dysfunction and emotional processing in ALS: an fMRI study.

scientific article

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

scientific article

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

scientific article published on 22 February 2009

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

scientific article

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

scientific article published in August 2003

S2.1 Enzyme replacement therapy (ERT)in Glycogen Storage Disease Type II:the first treatment developed

scientific article published in December 2011

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

scientific article

Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?

scientific article

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients ⬇️

scientific article published on February 1, 1992

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

scientific article published on 13 September 2006

Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis

scientific article

Sensory-motor conduction time in amyotrophic lateral sclerosis

scientific article published on 01 May 1989

Serum lipids, lipoprotein analysis and apoprotein A-I, A-II and B levels in Friedreich's ataxia

scientific article published on 01 January 1990

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency

scientific article published in January 1994

Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy

scientific article published on 01 January 1996

Skeletal muscle satellite cells in amyotrophic lateral sclerosis

scientific article published on 31 July 2014

Spectrum of metabolic myopathies

scientific article published on 02 July 2014

Sphingomonas paucimobilis associated with localised calf myositis

scientific article published in October 2008

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

scientific article published on 12 September 2007

State of the art in muscle glycogenoses

scientific article published on October 2010

Steroids in muscular dystrophy: where do we stand?

scientific article published on 01 August 1998

Subacute sensory ataxia and optic neuropathy with thiamine deficiency

scientific article

Subcellular distribution of acid and neutral alpha-glucosidases in normal, acid maltase deficient, and myophosphorylase deficient human skeletal muscle

scientific article published on 01 May 1973

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

scientific article

Syndrome of carnitine deficiency

scientific article

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

scientific article published on December 1980

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

scientific article published on 19 February 2009

TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis.

scientific article published in January 2010

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

scientific article published on 26 August 2015

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

scientific article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.

scientific article published on 09 January 2017

Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

scientific article published on 01 September 2006

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

scientific article published on 8 July 2008

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

scientific article published in February 2010

The clinical spectrum of sarcoglycanopathies

scientific article

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients

scientific article published on 01 April 1988

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

scientific article

The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia

scientific article published on 01 December 2004

The role of life events in the myasthenia gravis outcome: a one-year longitudinal study

scientific article published on 01 April 1989

The role of ultrastructural examination in storage diseases.

scientific article published in October 2010

Therapeutic advances in the management of Pompe disease and other metabolic myopathies ⬇️

scientific article published on September 1, 2013

Therapy of Parkinson's disease with L-dopa. Preliminary considerations on 40 cases

scientific article published in December 1970

Thymus gland scan in myasthenia gravis: experience in 52 patients

scientific article published on 01 July 1978

Toxic myopathy induced by industrial minerals oils: clinical and histopathological features

scientific article published on 01 December 1986

Transcriptional and translational effects of intronic CAPN3 gene mutations

scientific article published on September 2010

Transcriptional behavior of DMD gene duplications in DMD/BMD males

scientific article published on February 2009

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

scientific article

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy

scientific article published in November 1989

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

scientific article

Ultrastructural changes in LGMD1F

scientific article published on 21 December 2012

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

scientific article published on February 2005

Undiagnosed myopathy before surgery and safe anaesthesia table

scientific article published on October 2013

Unilateral calf hypertrophy due to S1-radiculopathy

scientific article published on 01 October 2000

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

scientific article published on 01 January 1992

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

scientific article published on 01 February 1996

[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation.]

scientific article published on 01 October 1989

[Aminoacid levels in Werding-Hoffmann and Kugelberg-Welander diseases (author's transl)]

scientific article published on 01 November 1978

[An] enumeration shall be made…

scientific article published on 04 September 2015

[Behavior of serum isoenzymes of lactic dehydrogenase in various muscular diseases]

scientific article published on 01 November 1970

[Case of polyomyositis with serious electroencephalographic changes. Relations between muscle lesions and functional damage of the central nervous system]

scientific article published on 01 April 1970

[Description of two cases of retrobrachiocephalic thymus gland]

scientific article published on 01 October 1994

[Hypertrophic ischemic neuropathies]

scientific article published on 01 July 1974

[Imaging of the thymus gland in myasthenia gravis (computerized tomography and magnetic resonance)]

scientific article published on 01 October 1995

[Lafora disease complicating myoclonus epilepsy. Report of 3 cases]

scientific article published on 01 September 1980

[Myopathies caused by defects of lipid and carbohydrate metabolism]

scientific article published on 01 January 1988

[Natural history of muscular dystrophy inferred from a multicenter trial and the results of a dietetic trial]

scientific article published on 01 August 1986

[Preliminary study on the use of acetylcarnitine in patients with mental deterioration]

scientific article published on 01 May 1982

[Report of two patients with fibromuscular dysplasia of the internal carotid artery (author's transl)]

scientific article published on 01 May 1981

[Systemic carnitine deficiency: its place in Reye's syndrome (author's transl)]

scientific article published on 01 February 1981

[The heart in myotonic dystrophy. Clinical and instrumental study in 17 patients (author's transl)]

scientific article published on 01 January 1980

[Thyrotoxic and hypothyroid myopathy. Biochemical and histopathological study]

scientific article published on 01 June 1970

[Usefulness Of electromyographic examination of families of patients affected with hypertrophic sensory-motor neuropathy (Charcot-Marie-Tooth disease). Preliminary results]

scientific article published on 01 April 1984

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

scientific article published on 01 September 1996

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