Published in Nat Genet on September 01, 1993
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron (2008) 2.95
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. J Exp Med (2013) 1.13
Animal models for inherited peripheral neuropathies. J Anat (1997) 1.00
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry (1999) 0.99
The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain. J Cell Biol (1994) 0.99
Molecular genetics of charcot-marie-tooth disease: from genes to genomes. Mol Syndromol (2012) 0.97
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. Proc Natl Acad Sci U S A (1993) 0.96
Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain. J Cell Biol (1996) 0.91
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry (2000) 0.90
Phenotypic presentation of the Ser63Del MPZ mutation. J Peripher Nerv Syst (2012) 0.84
Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder. J Cell Biol (2004) 0.82
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain (2015) 0.81
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. Am J Hum Genet (1996) 0.80
U1 snRNA mis-binding: a new cause of CMT1B. Neurogenetics (2009) 0.80
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. J Med Genet (1994) 0.79
Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review. J Neurol Neurosurg Psychiatry (1995) 0.77
Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy. ASN Neuro (2016) 0.77
Pathogenesis of axonal dystrophy and demyelination in alphaA-crystallin-expressing transgenic mice. Int J Exp Pathol (2003) 0.76
Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders. Front Mol Neurosci (2017) 0.75
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome. BMC Res Notes (2010) 0.75
Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse. J Neurosci (2016) 0.75
A rapid method for simultaneous detection of phenotypic resistance to inhibitors of protease and reverse transcriptase in recombinant human immunodeficiency virus type 1 isolates from patients treated with antiretroviral drugs. Antimicrob Agents Chemother (1998) 5.64
Polymyositis: an overdiagnosed entity. Neurology (2003) 4.36
A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet (1996) 3.58
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord (1991) 3.37
Human blood platelet adhesion to artery subendothelium is mediated by factor VIII-Von Willebrand factor bound to the subendothelium. Nature (1979) 3.06
[The symptomatic treatment of amyotrophic lateral sclerosis]. Ned Tijdschr Geneeskd (2004) 2.61
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet (2000) 2.52
The role of herpes simplex virus type 1 thymidine kinase in pathogenesis. J Gen Virol (1989) 2.40
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
Status of antithrombotic therapy for patients with atrial fibrillation in university hospitals. Arch Intern Med (1996) 2.32
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.04
Histochemical aspects of five limb muscles in old age. An autopsy study. J Neurol Sci (1971) 2.03
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
[Prion disease: a new class of neurodegenerative disorders]. Ned Tijdschr Geneeskd (1995) 2.02
[Peer review in requests for subsidy]. Ned Tijdschr Geneeskd (1997) 2.02
Prevention of cisplatin neurotoxicity with an ACTH(4-9) analogue in patients with ovarian cancer. N Engl J Med (1990) 1.99
Diagnostic investigation of patients with chronic polyneuropathy: evaluation of a clinical guideline. J Neurol Neurosurg Psychiatry (2001) 1.92
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology (2008) 1.86
Baseline HIV drug resistance profile predicts response to ritonavir-saquinavir protease inhibitor therapy in a community setting. AIDS (1999) 1.85
Yield of combined perfusion and diffusion MR imaging in hemispheric TIA. Neurology (2008) 1.80
Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology (2007) 1.79
Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord (1991) 1.68
Chronic idiopathic polyneuropathy presenting in middle or old age: a clinical and electrophysiological study of 75 patients. J Neurol Neurosurg Psychiatry (1993) 1.67
Thymineless death in Bacillus megaterium. J Bacteriol (1964) 1.61
Mapping of quantitative trait loci controlling trypanotolerance in a cross of tolerant West African N'Dama and susceptible East African Boran cattle. Proc Natl Acad Sci U S A (2003) 1.60
Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord (2008) 1.60
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol (2000) 1.59
Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology (2000) 1.57
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet (1991) 1.56
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.56
Data on the distribution of fibre types in five human limb muscles. An autopsy study. J Neurol Sci (1971) 1.51
The postpolio syndrome: no evidence for poliovirus persistence. Ann Neurol (1992) 1.48
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet (1996) 1.47
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet (1994) 1.47
Diagnostic and classification criteria for the Guillain-Barré syndrome. Eur Neurol (2001) 1.47
The extensor digitorum brevis: histological and histochemical aspects. J Neurol Neurosurg Psychiatry (1972) 1.47
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral. Eur J Neurol (2013) 1.43
Botulinum toxin-induced myopathy in the rat. Brain (1995) 1.43
Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. J Neurol Neurosurg Psychiatry (2013) 1.42
Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy. Ophthalmic Paediatr Genet (1993) 1.42
[Amyotrophic lateral sclerosis: mechanical ventilation--or not right?]. Ned Tijdschr Geneeskd (2004) 1.41
Dysphagia in postpolio patients: a videofluorographic follow-up study. Dysphagia (1994) 1.40
Comparative effects of 5-fluorouracil on strains of Bacillus megaterium. J Bacteriol (1964) 1.39
Rapid determination of the hypoxanthine increase in ischemic exercise tests. Clin Chem (1988) 1.38
[Leber's optic nerve atrophy; a mitochondrial hereditary disease]. Ned Tijdschr Geneeskd (1995) 1.38
Resistance profile of the human immunodeficiency virus type 1 reverse transcriptase inhibitor abacavir (1592U89) after monotherapy and combination therapy. CNA2001 Investigative Group. J Infect Dis (2000) 1.37
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
The inferior oblique as muscle of choice for biopsies of extraocular muscles. Br J Ophthalmol (1979) 1.35
Characterization of a DNA polymerase mutant of herpes simplex virus from a severely immunocompromised patient receiving acyclovir. J Gen Virol (1989) 1.33
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord (1999) 1.32
Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31
Treatment of multifocal motor neuropathy with high dose intravenous immunoglobulins: a double blind, placebo controlled study. J Neurol Neurosurg Psychiatry (1995) 1.31
De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet (1992) 1.30
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry (2009) 1.29
Chronic idiopathic axonal polyneuropathy: a five year follow up. J Neurol Neurosurg Psychiatry (1994) 1.29
Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy: a double blind, placebo controlled study. J Neurol Neurosurg Psychiatry (1993) 1.28
Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. Anat Rec (1993) 1.28
N-glycosylation and deletion mutants of the human MDR1 P-glycoprotein. J Biol Chem (1993) 1.28
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26
Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology (2005) 1.26
Peroxisomes, lipid metabolism and lipotoxicity. Biochim Biophys Acta (2010) 1.25
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain (1999) 1.24
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet (1996) 1.23
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology (2002) 1.23
Red blood cell size is important for adherence of blood platelets to artery subendothelium. Blood (1983) 1.23
Long-term outcome in polymyositis and dermatomyositis. Ann Rheum Dis (2006) 1.22
Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain (2003) 1.22
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol (2007) 1.20
EFNS guideline on diagnosis and management of post-polio syndrome. Report of an EFNS task force. Eur J Neurol (2006) 1.20
The Lambert-Eaton myasthenic syndrome 1988-2008: a clinical picture in 97 patients. J Neuroimmunol (2008) 1.16
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet (1994) 1.16
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry (2005) 1.16
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet (1994) 1.15
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology (2006) 1.15
The unfolding clinical spectrum of POLG mutations. J Med Genet (2009) 1.14
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet (1995) 1.13
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13
Allelotype of pediatric rhabdomyosarcoma. Oncogene (1997) 1.13
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res (2000) 1.12