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European Journal of Human Genetics : EJHG
|
October 16, 2025
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation-contraction coupling disorders
Enrico Bertini
Developmental Medicine and Child Neurology
|
October 1, 2024
Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long-term follow-up
Enrico Bertini, Keith Massey
Current Neurology and Neuroscience Reports
|
March 28, 2008
Congenital myopathies
Adele D'Amico, Enrico Bertini
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 11, 2002
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
Enrico Bertini, Guglielmina Pepe
Neuromuscular Disorders : NMD
|
December 5, 2012
Stem cells in severe infantile spinal muscular atrophy
Eugenio Mercuri, Enrico Bertini
International Journal of Molecular Sciences
|
November 8, 2017
The Potential of iPSCs for the Treatment of Premature Aging Disorders
Claudia Compagnucci, Enrico Bertini
Handbook of Clinical Neurology
|
April 30, 2013
Metabolic neuropathies and myopathies
Adele D'Amico, Enrico Bertini
Handbook of Clinical Neurology
|
June 13, 2018
X-linked ataxias
Ginevra Zanni, Enrico Bertini
Nature Reviews. Neurology
|
January 20, 2018
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy
Enrico Bertini, Eugenio Mercuri
Endocrine Development
|
April 2, 2009
Mitochondrial encephalomyopathies and related syndromes: brief review
Enrico Bertini, Adele D'Amico
Page
of 64
Search research articles
Search
Showing results (1-10 of 637) with videos related to
Sort By:
Page
of 64
European Journal of Human Genetics : EJHG
|
October 16, 2025
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation-contraction coupling disorders
Enrico Bertini
Developmental Medicine and Child Neurology
|
October 1, 2024
Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long-term follow-up
Enrico Bertini, Keith Massey
Current Neurology and Neuroscience Reports
|
March 28, 2008
Congenital myopathies
Adele D'Amico, Enrico Bertini
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 11, 2002
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
Enrico Bertini, Guglielmina Pepe
Neuromuscular Disorders : NMD
|
December 5, 2012
Stem cells in severe infantile spinal muscular atrophy
Eugenio Mercuri, Enrico Bertini
International Journal of Molecular Sciences
|
November 8, 2017
The Potential of iPSCs for the Treatment of Premature Aging Disorders
Claudia Compagnucci, Enrico Bertini
Handbook of Clinical Neurology
|
April 30, 2013
Metabolic neuropathies and myopathies
Adele D'Amico, Enrico Bertini
Handbook of Clinical Neurology
|
June 13, 2018
X-linked ataxias
Ginevra Zanni, Enrico Bertini
Nature Reviews. Neurology
|
January 20, 2018
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy
Enrico Bertini, Eugenio Mercuri
Endocrine Development
|
April 2, 2009
Mitochondrial encephalomyopathies and related syndromes: brief review
Enrico Bertini, Adele D'Amico
Page
of 64