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List of works by Giovanni Meola

"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients

scientific article

222nd ENMC International Workshop:

scientific article published on 12 February 2018

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

scientific article published in November 1990

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

scientific article published on May 1996

A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1.

scientific article published on 23 July 2008

AIDS IN AN ITALIAN DRUG ADDICT

scientific article published in The Lancet

Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats.

scientific article

Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology.

scientific article

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype

scientific article published on 28 January 2014

Amyotrophy and Kluever-Bucy syndrome. A case report

scientific article published in January 1977

Analysis of fibronectin expression during human muscle differentiation

article

Andersen's syndrome: A distinct periodic paralysis

scientific article published on 01 September 1997

Apoptosis induced by proteasome inhibition in human myoblast cultures

article

Bimodal administration of entacapone in Parkinson's disease patients improves motor control

scientific article

Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

scientific article published on 01 October 2004

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.

scientific article published on 25 May 2016

CK-MM PGAM-MM G6PD and am biochemical markers of functional innervated cultured human muscle fibers

scientific article published on 01 February 1991

Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging

scientific article published on 01 July 1995

Central nervous system involvement in HCV-related mixed cryoglobulinemia

scientific article published in May 2006

Cerebral involvement in myotonic dystrophies

scientific article published on September 2007

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy.

scientific article

Chronic myopathy with cytoplasmic bodies in the pig

scientific article published on 01 January 1978

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

scientific article published in May 1993

Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies

scientific article published on December 2013

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

scientific article published on 10 March 2012

Cognition in myotonic dystrophy type 1: a 5-year follow-up study.

scientific article published on 20 June 2016

Cognitive impairment in adult myotonic dystrophies: a longitudinal study.

scientific article published in March 2007

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

scientific article

Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia

scientific article

Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy

scientific article published in November 1996

Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis

scientific article published on 01 November 2004

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

scientific article

Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy

scientific article published on 07 February 2014

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Contrast-induced seizures after cardiac catheterization in a 6-year-old child

scientific article published in April 2007

Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence ⬇️

scientific article published on August 27, 2011

Cultures of human Schwann cells isolated from fetal nerves

scientific article

Cytochemical and ultrastructural studies of human foetal muscle in culture

article

Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy

scientific article published on 01 June 1986

Cytoplasmic restoration and persistence of glucose-6-phosphate dehydrogenase activity in stable hybrid myotubes

scientific article published on January 1, 1993

De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy

scientific article published on 01 October 1997

Deregulated microRNAs in myotonic dystrophy type 2

scientific article (publication date: 2012)

Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2.

scientific article

Diagnosis and new treatment in muscle channelopathies.

scientific article published on April 2009

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

scientific article

Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?

scientific article

Dysfunction of protein homeostasis in myotonic dystrophies.

scientific article published on 28 March 2013

Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1

article by Riccardo Perbellini et al published February 2011 in Neuromuscular Disorders

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

scientific article

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Enzymatic activity and morphological differentiation in de novo innervated human muscle cultures.

scientific article published in January 1994

Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection

scientific article published in May 1979

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

scientific article

Expression of the low-affinity NGF receptor during human muscle development, regeneration, and in tissue culture

article

Familial nemaline myopathy

scientific article published on 01 November 1982

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

scientific article

GSK3β mediates muscle pathology in myotonic dystrophy

scientific article

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

scientific article published on January 2007

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

scientific article

Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism.

scientific article published on March 2006

Gonadal failure is associated with visceral adiposity in myotonic dystrophies

scientific article published in June 2015

Growth and differentiation of myogenic clones from adult human muscle cell cultures

article

Hair whorl patterns on the bovine forehead may be related to breeding soundness measures

scientific article published on 01 August 2004

Hereditary human myopathies in muscle culture

scientific article published on June 1991

Histological study of extraocular muscles in the so-called progressive nuclear ophthalmoplegias

scientific article published on January 1, 1976

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

scientific article published on 01 June 2003

Human Myoblasts from Skeletal Muscle Biopsies: In Vitro Culture Preparations for Morphological and Cytochemical Analyses at Light and Electron Microscopy

article

Human Schwann cells: cytochemical, ultrastructural and immunological studies in vivo and in vitro.

scientific article published in January 1987

Human skeletal muscle sodium channelopathies

scientific article

Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency

scientific article published in April 2007

I-14Molecular pathomechanism of DM2/PROMM:similarities and differences between DM1 and DM2.

scientific article published in October 2011

Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments

scientific article published on 9 May 2013

Immunological properties of myosin in myotonic dystrophy

scientific article published on 01 May 1982

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria ⬇️

scientific article published on April 1, 1991

Increased acetylcholine sensitivity in Duchenne muscular dystrophy myotubes

scientific article published on 01 April 1991

Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

scientific article published on 26 May 2006

Increased visceral adipose tissue rather than BMI as a risk factor for dementia

scientific article published on 26 July 2007

Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures

article

Is it too early to recommend patent foramen ovale closure for all patients who suffer from migraine? A single-centre study

scientific article published on May 2009

Italian guidelines for molecular analysis in myotonic dystrophies.

scientific article published on June 2006

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

scientific article published on 30 March 2010

Long-term follow-up free of ventricular fibrillation recurrence after resuscitated cardiac arrest in a myotonic dystrophy type 1 patient

scientific article published on 25 June 2009

MRI of tibialis anterior as "surrogate measure" in myotonic dystrophy type 1

scientific article published on 01 January 2011

MUSCLE G6PD DEFICIENCY

scientific article published in The Lancet

Manifesting carrier of X-linked Duchenne muscular dystrophy

scientific article published on 01 March 1981

Measuring quality of life impairment in skeletal muscle channelopathies.

scientific article

Metabolic impairment and membrane abnormality in red cells from Huntington's disease.

scientific article

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial

scientific article published on October 2012

Mitochondrial myopathies: morphological and biochemical studies in human muscle cultures

scientific article

Morphological studies and quantitative assessment of the effect of chick embryo extract on monolayer cultures of normal human muscle

article

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

article

Muscle biopsy.

scientific article published on 30 July 2011

Muscle glucose-6-phosphate dehydrogenase deficiency

scientific article published on 01 May 1989

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

scientific article published in March 1994

Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia.

scientific article published on 22 April 2013

Muscular pathology in malignant hyperpyrexia in man and swine. Comparative study

scientific article published in January 1976

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian Paramyotonia Congenita (PC) family

article

Myopathy with paroxysmal myoglobinuria and focal muscle necrosis following enfluorane anaesthesia

scientific article

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients

scientific journal article

Myotonic dystrophies

article

Myotonic dystrophies as a brain disorder

article published in 2010

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

scientific article (publication date: April 2015)

Myotonic dystrophy is not only a disease affecting the muscles, it is also a CNS disorder

scientific article published on 14 August 2013

Myotonic dystrophy type 2 (DM2) and related disorders

scientific article published on 04 May 2011

Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects

scientific article published on 11 January 2017

Myotonic dystrophy type 2 and related myotonic disorders

scientific article published in October 2004

Neural regulation of acid maltase in an unusual adult onset deficiency

scientific article published on 01 September 1994

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

scientific article published on 01 April 2004

Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2.

scientific article published on 17 June 2012

Oculopharyngeal muscular dystrophy in Italy

article

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

scientific article

Pentazocine-induced neuromuscular syndrome: clinical, histochemical features in two cases and a tissue culture study of pentazocine-block myogenesis in human foetal muscle.

scientific article published on January 1980

Persistent autobiographical amnesia: a case report

scientific article published on January 2007

Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit

scientific article published on 01 May 1982

Physiological and histochemical changes of the extensor digitorum longus and soleus muscles after lateral cordotomy in the albino rat ⬇️

scientific article published on December 1, 1978

Plasma microRNAs as biomarkers for myotonic dystrophy type 1.

scientific article published on 18 February 2014

Posterior reversible encephalopathy syndrome after long-term treatment with low-dose sunitinib: a case report

scientific article

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

Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction

scientific article

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

scientific article published on 25 June 2014

Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways

scientific article

Proximal myotonic dystrophy mimicking progressive muscular atrophy

scientific article published on 01 February 2005

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

scientific article published on 01 May 1999

Proximal myotonic myopathy: a syndrome with a favourable prognosis?

scientific article published on 01 January 2002

Proximal myotonic myopathy: report on italian families and literature review.

scientific article published on June 2001

Quantitative myotonia assessment: an experimental protocol.

scientific article published in January 2000

RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1

scientific article

RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2

scientific article

RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence

scientific article

RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy

article published in 2011

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

article

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

scientific article published on 23 September 2009

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

scientific article published on 10 February 2016

Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets

article

Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy

scientific article published in September 1999

Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5

scientific article published on 15 June 2015

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands

scientific article published in September 2003

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

scientific article published on 01 March 2002

Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011.

scientific article published on 5 September 2013

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013.

scientific article published on 27 January 2015

Response to DNA-damaging agents in cultured cells from patients with X-linked duchenne muscular dystrophy phenotype: male DMD, female DMD, possible carriers

scholarly article by Laura Barsi et al published October 1987 in Cytotechnology

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

scientific article

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

scientific article published on 01 April 2009

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies.

scientific article published on 29 June 2009

Routinely frozen biopsies of human skeletal muscle are suitable for morphological and immunocytochemical analyses at transmission electron microscopy

scientific article published on 08 July 2010

S-100 protein and laminin: Immunocytochemical markers for human Schwann cells in vitro

scientific article published on 01 July 1986

SCN4A as modifier gene in patients with myotonic dystrophy type 2

scientific article published in Scientific Reports

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype

scientific article

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

scientific article (publication date: August 1994)

Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro.

scientific article published on January 1993

Strictly monitored exercise programs reduce motor deterioration in ALS: preliminary results of a randomized controlled trial

scientific article

Structural and functional alterations of the cell nucleus in skeletal muscle wasting: the evidence in situ ⬇️

scientific article published on October 19, 2010

Systematic review and meta-analysis of currently available clinical evidence on migraine and patent foramen ovale percutaneous closure: much ado about nothing?

scientific article published on March 2010

The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes.

scientific article published on 23 December 2012

The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases

scientific article published on May 1, 1978

Therapy in myotonic disorders and in muscle channelopathies.

scientific article published in January 2000

Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1

scientific article

Treatment for periodic paralysis

scientific article

Treatment of denervated muscle by gangliosides ⬇️

scientific article published on September 1, 1979

Two cases of benign neuromyelitis optica in patients with celiac disease

scientific article published on 01 December 2009

Type 2 atrophy in a pentazocine addicted patient

scientific article published on March 1, 1980

Video laparoscopic cholecystectomy in a female patient with cholelithiasis in Steinert's myotonic dystrophy

scientific article published in January 2000

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.

scientific article published on 25 June 2013

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

scientific article

Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2-3 December 2014, Milan, Italy

scientific article

[Acute disseminated encephalomyelitis and multiple sclerosis]

scientific article published on 01 May 2004

[Clinical and histomorphological study of congenital myopathy with minimal lesions]

scientific article published on 01 November 1982

[Expression of a defect in the respiratory chain in cultured human cells]

scientific article published on 01 July 1991

[Neuroimaging in the early diagnosis of Krabbe leukodystrophy types 1 and 2]

scientific article published on 01 July 2007

[The myopathy of congenital fiber type disproportion]

scientific article published on 01 February 1984

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