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Journal of Neurology
|
September 30, 2011
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
Raffaele Dubbioso, Pasquale Moretta, Fiore Manganelli, et al.
Respiratory Medicine
|
October 4, 2016
Respiratory pattern in a FSHD pediatric population
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, et al.
Neurological Research
|
September 3, 2010
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency
Angelica Anichini, Marina Fanin, Christine Vianey-Saban, et al.
American Journal of Medical Genetics. Part A
|
December 19, 2018
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14
Marco Castori, Chiara Fiorillo, Emanuele Agolini, et al.
Frontiers in Pediatrics
|
August 25, 2025
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature
Luca Bosisio, Matteo Cataldi, Marina Grandis, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
November 7, 2014
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis
Alessandra Tessa, Chiara Fiorillo, Domenico De Grandis, et al.
Muscle & Nerve
|
February 18, 2010
Perioral skin biopsy to study skeletal muscle protein expression
Lucio Santoro, Maria Nolano, Stefania Faraso, et al.
Journal of Neurology
|
February 9, 2017
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
Lucia Ruggiero, Chiara Fiorillo, Claudia Nesti, et al.
Journal of Child Neurology
|
April 25, 2018
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study
Raffaele Falsaperla, Giovanna Vitaliti, Ausilia Desiree Collotta, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 9, 2022
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive course
Carolina Croci, Monica Traverso, Serena Baratto, et al.
Page
of 15
Search research articles
Search
Showing results (11-20 of 142) with videos related to
Sort By:
Page
of 15
Journal of Neurology
|
September 30, 2011
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
Raffaele Dubbioso, Pasquale Moretta, Fiore Manganelli, et al.
Respiratory Medicine
|
October 4, 2016
Respiratory pattern in a FSHD pediatric population
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, et al.
Neurological Research
|
September 3, 2010
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency
Angelica Anichini, Marina Fanin, Christine Vianey-Saban, et al.
American Journal of Medical Genetics. Part A
|
December 19, 2018
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14
Marco Castori, Chiara Fiorillo, Emanuele Agolini, et al.
Frontiers in Pediatrics
|
August 25, 2025
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature
Luca Bosisio, Matteo Cataldi, Marina Grandis, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
November 7, 2014
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis
Alessandra Tessa, Chiara Fiorillo, Domenico De Grandis, et al.
Muscle & Nerve
|
February 18, 2010
Perioral skin biopsy to study skeletal muscle protein expression
Lucio Santoro, Maria Nolano, Stefania Faraso, et al.
Journal of Neurology
|
February 9, 2017
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
Lucia Ruggiero, Chiara Fiorillo, Claudia Nesti, et al.
Journal of Child Neurology
|
April 25, 2018
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study
Raffaele Falsaperla, Giovanna Vitaliti, Ausilia Desiree Collotta, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 9, 2022
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive course
Carolina Croci, Monica Traverso, Serena Baratto, et al.
Page
of 15