Published in Brain on July 08, 2004
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet (2012) 1.16
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. Mol Cell Biol (2006) 1.02
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med (2015) 0.99
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics (2012) 0.93
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci (2008) 0.85
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve (2013) 0.85
Towards a mechanistic understanding of lipodystrophy and seipin functions. Biosci Rep (2014) 0.85
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis (2013) 0.84
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Neurogenetics (2009) 0.83
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet J Rare Dis (2016) 0.79
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Rep Neurol Med (2014) 0.77
Motor neuron degeneration in a mouse model of seipinopathy. Cell Death Dis (2013) 0.76
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology (2016) 0.75
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. Iran Biomed J (2016) 0.75
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. PLoS One (2016) 0.75
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol (2016) 0.75
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
Novel cancer immunotherapy agents with survival benefit: recent successes and next steps. Nat Rev Cancer (2011) 6.44
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
Cost of disorders of the brain in Europe 2010. Eur Neuropsychopharmacol (2011) 4.63
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Identification of modulators of TRAIL-induced apoptosis via RNAi-based phenotypic screening. Mol Cell (2003) 4.25
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet (2011) 3.91
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet (2003) 3.22
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet (2003) 3.15
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet (2006) 3.04
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med (2010) 3.01
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet (2004) 2.86
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med (2011) 2.60
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
The C-MAC videolaryngoscope: first experiences with a new device for videolaryngoscopy-guided intubation. Anesth Analg (2009) 2.46
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
Percutaneous epidural lysis of adhesions in chronic lumbar radicular pain: a randomized, double-blind, placebo-controlled trial. Pain Physician (2013) 2.15
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet (2009) 2.12
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci (2012) 1.97
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
The genetics of Dravet syndrome. Epilepsia (2011) 1.77
First clinical evaluation of the C-MAC D-Blade videolaryngoscope during routine and difficult intubation. Anesth Analg (2010) 1.77
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70