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List of works by Giuseppe Vita

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

scientific article published in February 2002

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in

scientific article published on 19 February 2018

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

scientific article published on 01 March 2002

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]

scientific article published on 09 September 2006

A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).

scientific article published on July 1994

ANT1 is reduced in sporadic inclusion body myositis.

scientific article published on 21 February 2012

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

scientific article published on 01 November 2000

Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects

scientific article published on 09 December 2020

Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation

scientific article published on 21 August 2006

Apoptosis and apoptosis-related proteins in thyroid myopathies.

scientific article

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial ⬇️

scientific article published on April 1, 2011

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

scientific article published on 19 April 2005

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients

scientific article published on 17 August 2012

Autonomic function in elderly uremics studied by spectral analysis of heart rate

scientific article

Autonomic involvement in subacute and chronic immune-mediated neuropathies.

scientific article published on 18 June 2013

Axial myopathy in myasthenia: A misleading cause of dropped head

scientific article published in 2004

Botulinum toxin therapy: distant effects on neuromuscular transmission and autonomic nervous system.

scientific article

Calpain 3 deficiency in Quail Eater's disease

scientific article published in 2003

Cardiovascular autonomic control in Becker muscular dystrophy

scientific article published on 01 May 2001

Cardiovascular autonomic dysfunction in multiple sclerosis is likely related to brainstem lesions

scientific article published on 01 December 1993

Cardiovascular reflex tests. Assessment of age-adjusted normal range

scientific article published on 01 October 1986

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.

scientific article published on October 2010

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

scientific article published on 30 December 2014

Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings

scientific article published on 01 June 2008

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

scientific article

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

scientific article published on 20 August 2008

Chiari I malformation mimicking myasthenia gravis

scientific article published in March 2003

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 muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

scientific article published in December 2005

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) ⬇️

scientific article published on November 30, 2011

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

Congenital muscular dystrophy: Correlation of muscle biopsy and clinical features

scientific article published on 01 May 1994

Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A.

scientific article published in March 2008

Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study

scientific article published on 10 March 2006

Distribution and localization of vinculin-talin-integrin system and dystrophin-glycoprotein complex in human skeletal muscle. Immunohistochemical study using confocal laser scanning microscopy.

scientific article

Down-regulation of thyrotropin-releasing hormone (TRH) receptors in spinal cord after transection as revealed by quantitative autoradiography

scientific article published in January 1991

Dystrophinopathy in a young boy with Klinefelter's syndrome

scientific article published on 01 June 1998

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

scientific article published on 01 March 1995

Effect of ACTH4-10 on nerve fiber regeneration after sciatic nerve crush in rabbits: an electrophysiological and morphological study

scientific article published in February 1988

Effect of electrotherapy on denervated muscles in rabbits: an electrophysiological and morphological study

scientific article published on 01 September 1982

Effect of exercise on telomere length and telomere proteins expression in mdx mice

scientific article published on 23 May 2020

Effectiveness of skeletal scintigraphy in transthyretin-related amyloidosis

scientific article published on 03 August 2013

Effects of experimental spinal cord transection on substance P receptors: a quantitative autoradiography study

scientific article published in November 1990

Effects of steroid hormones on muscle reinnervation after nerve crush in rabbit

scientific article published on 01 May 1983

Endocardial and epicardial deformations in cardiac amyloidosis and hypertrophic cardiomyopathy

scientific article published on 17 March 2011

Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

article

Evidence of cardiovascular autonomic impairment in mitochondrial disorders.

scientific article published on 9 November 2007

Expression of cytoskeleton proteins in central core disease.

scientific article published in June 1994

Expression of muscle-specific integrins in masseter muscle fibers during malocclusion disease

scientific article published on 30 April 2012

Expression of plectin in muscle fibers with cytoarchitectural abnormalities

scientific article published on 01 August 2003

Expression of telomeric repeat binding factor-1 in astroglial brain tumors

scientific article published in April 2005

Expression of the tumor necrosis factor receptor-associated factors 1 and 2 and regulation of the nuclear factor-kappaB antiapoptotic activity in human gliomas.

scientific article published in November 2005

Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies

scientific article published on 14 November 2007

Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study.

scientific article

Fahr's syndrome: local inflammatory factors in the pathogenesis of calcification

scientific article published in February 1986

Failure of the prednisolone test in neuromuscular disorders

scientific article

Familial oculopharyngeal muscular dystrophy with distal spread

scientific article published on 01 January 1983

Fatal exacerbation of peripheral neuropathy during lamivudine therapy: evidence for iatrogenic mitochondrial damage.

scientific article published in August 2005

Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.

scientific article published on October 1994

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

scientific article published on 6 July 2011

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies

scientific article published on 01 March 2019

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle

scientific article published on 25 February 2019

Heart rate variability: a diagnostic and prognostic tool in anesthesia and intensive care.

scientific article published on 09 June 2011

Hippo signaling pathway is altered in Duchenne muscular dystrophy

scientific article published in PLoS ONE

Histochemical characteristics of rabbit stapedius muscle

scientific article published on 01 August 1983

Ictal and interictal EEG abnormalities in ADHD children recorded over night by video-polysomnography.

scientific article published on 27 June 2007

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

scientific article published in December 2007

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

scientific article published on 8 February 2009

Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency

scientific article published on 01 June 1994

Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity

scientific article published on 29 March 2006

Immunolocalization and activation of nuclear factor-kappaB in the sciatic nerves of rats with experimental autoimmune neuritis

scientific article published on 06 March 2006

Immunolocalization and activation of transcription factor nuclear factor kappa B in dysimmune neuropathies and familial amyloidotic polyneuropathy

scientific article published on 01 July 2004

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

scientific article

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

scientific article published on 25 July 2018

Is it the right time for an infant screening for Duchenne muscular dystrophy?

scientific article published on 28 February 2020

Is overwork weakness relevant in Charcot-Marie-Tooth disease?

scientific article published on 21 March 2014

Is there a relationship between somatic and autonomic neuropathies in chronic alcoholics?

scientific article published in January 2005

Juvenile limb-girdle myasthenia gravis

scientific article published on 01 December 2005

Left atrial function in cardiac amyloidosis

scientific article

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

scientific article published in December 2002

Lipid peroxidation inhibition blunts nuclear factor-kappaB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice.

scientific article

MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy.

scientific article published on December 2010

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

scientific article published on 01 September 1996

Motor function-muscle strength relationship in spinal muscular atrophy

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association

scientific article published on 01 August 2002

Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.

scientific article published in March 1994

Muscle uptake of 99mtechnetium pyrophosphate in patients with neuromuscular disorder. A quantitative study

scientific article published on 01 January 1982

Natural history of CMT1A including QoL: A 2-year prospective study

scientific article published in March 2008

Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life.

scientific article published on 17 December 2009

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes

scientific article published on 05 December 2007

Nuclear factor kappa-B blockade reduces skeletal muscle degeneration and enhances muscle function in Mdx mice

scientific article published on 10 January 2006

Nuclear factor-κB activation and differential expression of survivin and Bcl-2 in human grade 2-4 astrocytomas

article published in 2008

Osteosclerotic Myeloma With Spinal Leptomeningitis and Severe Polyneuropathy

scientific article published on 01 July 2006

Oxidative stress in myotonic dystrophy type 1.

scientific article published in July 2005

Perineurium talin immunoreactivity decreases in diabetic neuropathy

scientific article published on 01 February 1997

Practical approach to respiratory emergencies in neurological diseases

scientific article published on 02 December 2019

Psychosocial impact of sport activity in neuromuscular disorders

scientific article published on 04 April 2020

Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies.

scientific article published in January 2007

Quantitation of argyrophilic nucleolar organizer regions in regenerating muscle fibers in Duchenne and Becker muscular dystrophies and polymyositis

scientific article published on 01 March 1999

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

scientific article published on 01 February 2007

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

scientific article

Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.

scientific article published on 28 January 2005

Reduced adult neurogenesis and altered emotional behaviors in autoimmune-prone B-cell activating factor transgenic mice.

scientific article

Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study.

scientific article published in June 2008

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

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

scientific article published on 23 June 2009

Segmental myoclonus in a patient affected by syringomyelia

scientific article published on 01 February 2001

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

scientific article published on 19 June 2014

Single fiber EMG and cardiovascular reflexes in botulism: a follow-up study

scientific article published on 01 February 1986

Skeletal muscle disturbances may precede clinical and laboratory evidence of autoimmune hypothyroidism

scientific article published on 01 August 1998

Sleep disorders in children with Attention-Deficit/Hyperactivity Disorder (ADHD) recorded overnight by video-polysomnography

scientific article published on 13 June 2009

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

scientific article published in September 2005

Subacute inflammatory demyelinating polyneuropathy disclosed by massive nerve root enhancement in CMT1A

scientific article published on 15 December 2011

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

scientific article published on 12 April 2007

The mosaic of the cardiac amyloidosis diagnosis: role of imaging in subtypes and stages of the disease.

scientific article

The uptake of 99mtechnetium diphosphonate into degenerating and regenerating muscle. A correlative histological and biochemical study

scientific article published on 01 September 1981

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

scientific article

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

scientific article published on 01 December 2012

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene

scientific article published in December 2012

Uremic autonomic neuropathy studied by spectral analysis of heart rate

scientific article published on 01 July 1999

Usefulness of Combining Electrocardiographic and Echocardiographic Findings and Brain Natriuretic Peptide in Early Detection of Cardiac Amyloidosis in Subjects With Transthyretin Gene Mutation

scientific article published on 16 July 2015

VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice

scientific article published on 15 June 2007

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study.

scientific article published in December 2006

Which are the factors influencing NIV adaptation and tolerance in ALS patients?

scientific article published on 24 July 2020

Why do some Friedreich's ataxia patients retain tendon reflexes?

miR-21 and 221 upregulation and miR-181b downregulation in human grade II-IV astrocytic tumors

scientific article

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