[PDF][PDF] Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis, RE Ellsworth, N Sambuughin… - The American Journal of …, 2003 - cell.com
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V
(dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion …
(dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion …
[HTML][HTML] Genetic diagnosis of Mendelian disorders via RNA sequencing
Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …
[HTML][HTML] INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
O Boyer, F Nevo, E Plaisier, B Funalot… - … England Journal of …, 2011 - Mass Medical Soc
Background Charcot–Marie–Tooth neuropathy has been reported to be associated with
renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common …
renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common …
The various Charcot–Marie–Tooth diseases
JM Vallat, S Mathis, B Funalot - Current opinion in neurology, 2013 - journals.lww.com
CMT disease is the most common inherited neuromuscular disorder, with a fairly
homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot …
homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot …
Endoneurial fibroblast-like cells
L Richard, P Topilko, L Magy… - Journal of …, 2012 - academic.oup.com
Endoneurial fibroblast-like cells (EFLCs) have been described for more than 60 years, but
the embryology, functions, and pathology of these cells are not well defined. Several …
the embryology, functions, and pathology of these cells are not well defined. Several …
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor
F Jeanneteau, B Funalot, J Jankovic… - Proceedings of the …, 2006 - National Acad Sciences
Familial essential tremor (ET), the most common inherited movement disorder, is generally
transmitted as an autosomal dominant trait. A genome-wide scan for ET revealed one major …
transmitted as an autosomal dominant trait. A genome-wide scan for ET revealed one major …
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, F Sauvanaud… - Human …, 2010 - Wiley Online Library
Cockayne syndrome is an autosomal recessive multisystem disorder characterized
principally by neurological and sensory impairment, cachectic dwarfism, and …
principally by neurological and sensory impairment, cachectic dwarfism, and …
High metabolic level in patients with familial amyotrophic lateral sclerosis
B Funalot, JC Desport, F Sturtz, W Camu… - Amyotrophic Lateral …, 2009 - Taylor & Francis
An abnormally elevated level of resting energy expenditure (REE, measured by indirect
calorimetry) has been reported in a subset of patients with sporadic amyotrophic lateral …
calorimetry) has been reported in a subset of patients with sporadic amyotrophic lateral …
[PDF][PDF] Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome
S Gerber, KJ Alzayady, L Burglen… - The American Journal of …, 2016 - cell.com
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive
cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common …
cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common …
[HTML][HTML] An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients …
S Attarian, JM Vallat, L Magy, B Funalot… - Orphanet journal of rare …, 2014 - Springer
Abstract Background Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan
inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for …
inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for …