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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 11, 2017
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in <i>CHRNE</i> geneAnna Ardissone, Isabella Moroni, Pia Bernasconi, et al.BMJ Case Reports|May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduriaGiulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association|March 30, 2023
Nutritional status of children affected by X-linked adrenoleukodystrophyIsabella Moroni, Ramona De Amicis, Anna Ardissone, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 9, 2016
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander diseaseDavide Tonduti, Anna Ardissone, Isabella Ceccherini, et al.Molecular Genetics and Metabolism Reports|March 1, 2016
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive <i>SDHB</i> mutation with reduced penetranceAnna Ardissone, Federica Invernizzi, Alessia Nasca, et al.Frontiers in Pediatrics|December 17, 2025
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in <i>YARS2</i>-associated disease and a review of the literatureGiulia Ferrera, Giorgia Segre, Eleonora Lamantea, et al.Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.Genes|September 28, 2023
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature ReviewRaffaella Brugnoni, Daria Marelli, Nicola Iacomino, et al.Neuromuscular Disorders : NMD|May 2, 2019
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRISimona Saredi, Sara Gibertini, Leslie Matalonga, et al.European Journal of Neurology|April 11, 2023
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patientsAnna Ardissone, Giulia Ferrera, Costanza Lamperti, et al.Pageof 7