Related references
Note: Only part of the references are listed.Clinical spectrum of BICD2 mutations
M. Frasquet et al.
EUROPEAN JOURNAL OF NEUROLOGY (2020)
Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis
Abdelrahman Elshafay et al.
CNS DRUGS (2019)
Balance impairment in pediatric charcot-marie-tooth disease
Timothy Estilow et al.
MUSCLE & NERVE (2019)
Expanding the spectrum of genes responsible for hereditary motor neuropathies
Stefano C. Previtali et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
Veronick Benoy et al.
BRAIN (2018)
Complex neuroprotective and neurotoxic effects of histone deacetylases
Elizabeth A. Thomas et al.
JOURNAL OF NEUROCHEMISTRY (2018)
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
Zhongying Mo et al.
NATURE COMMUNICATIONS (2018)
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
Katy Eichinger et al.
NEUROLOGY (2018)
Normative reference values for strength and flexibility of 1,000 children and adults
Marnee J. McKay et al.
NEUROLOGY (2017)
Reference values for developing responsive functional outcome measures across the lifespan
Marnee J. McKay et al.
NEUROLOGY (2017)
Genetic heterogeneity of motor neuropathies
Boglarka Bansagi et al.
NEUROLOGY (2017)
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Alexander M. Rossor et al.
NEUROMUSCULAR DISORDERS (2017)
Natural History of Charcot-Marie-Tooth Disease During Childhood
Kayla M. D. Cornett et al.
ANNALS OF NEUROLOGY (2017)
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
Marco Luigetti et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2016)
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Steve Laurie et al.
HUMAN MUTATION (2016)
Acute optic neuropathy associated with a novel MFN2 mutation
Luca Leonardi et al.
JOURNAL OF NEUROLOGY (2015)
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases
Sven Niehues et al.
NATURE COMMUNICATIONS (2015)
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease
Manoj P. Menezes et al.
NEUROMUSCULAR DISORDERS (2014)
Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features
Francesco Bombelli et al.
JAMA NEUROLOGY (2014)
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability
Joshua Burns et al.
ANNALS OF NEUROLOGY (2012)
Charcot-Marie-Tooth disease in Northern England
Charlotte Foley et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
The distal hereditary motor neuropathies
Alexander M. Rossor et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
Jamie M. Eskuri et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2012)
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
Eppie M. Yiu et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2012)
MFN2 mutations cause severe phenotypes in most patients with CMT2A
S. M. E. Feely et al.
NEUROLOGY (2011)
A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs
S. Ajroud-Driss et al.
NEUROGENETICS (2009)
Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?
S. Reddel et al.
NEUROMUSCULAR DISORDERS (2008)
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
Ines Dierick et al.
BRAIN (2008)
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene
P. A. James et al.
NEUROLOGY (2006)
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
K Sivakumar et al.
BRAIN (2005)
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study
E Mercuri et al.
NEUROMUSCULAR DISORDERS (2004)
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J Irobi et al.
NATURE GENETICS (2004)
Share Paper
