Published in Brain on May 03, 2006
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol (2012) 1.80
Probing mechanisms that underlie human neurodegenerative diseases in Drosophila. Annu Rev Genet (2012) 1.21
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics (2008) 1.17
Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell (2015) 1.01
The genetics of dystonias. Adv Genet (2012) 0.96
The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms. BMC Genomics (2007) 0.95
A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet (2007) 0.88
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol (2009) 0.87
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat (2015) 0.75
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Prediction of cognitive decline in normal elderly subjects with 2-[(18)F]fluoro-2-deoxy-D-glucose/poitron-emission tomography (FDG/PET). Proc Natl Acad Sci U S A (2001) 3.86
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci (1976) 3.69
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell (1987) 3.60
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49
Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature (1988) 3.27
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
A full genome search in multiple sclerosis. Nat Genet (1996) 2.96
Hyperbaric oxygen for children with cerebral palsy: a randomised multicentre trial. HBO-CP Research Group. Lancet (2001) 2.79
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide. Am J Psychiatry (1999) 2.45
Impaired learning and LTP in mice expressing the carboxy terminus of the Alzheimer amyloid precursor protein. Nature (1997) 2.44
Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment. J Neurosci (2001) 2.43
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Glioblastomas with an oligodendroglial component: a pathological and molecular study. J Neuropathol Exp Neurol (2001) 2.24
HSV-1 in brain and risk of Alzheimer's disease. Lancet (1998) 2.21
Dynamics of gene expression for a hippocampal glycoprotein elevated in Alzheimer's disease and in response to experimental lesions in rat. Neuron (1990) 2.09
Myoblast transfer in Duchenne muscular dystrophy. Ann Neurol (1993) 2.08
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet (2008) 2.00
Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology (2009) 1.87
Population history and its impact on medical genetics in Quebec. Clin Genet (2005) 1.85
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol (1997) 1.79
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet (2001) 1.79
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with Duchenne muscular dystrophy. Cell Transplant (1994) 1.78
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology (2000) 1.73
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet (2000) 1.70
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry (2010) 1.69
MR appearance of hypertrophic olivary degeneration after contralateral cerebellar hemorrhage. AJNR Am J Neuroradiol (1991) 1.69
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology (2009) 1.67
Alzheimer's disease: current knowledge, management and research. CMAJ (1997) 1.66
Fulminating multiple sclerosis-like leukoencephalopathy revealing human immunodeficiency virus infection. Neurology (1991) 1.56
The Ginkgo biloba extract (EGb 761) protects hippocampal neurons against cell death induced by beta-amyloid. Eur J Neurosci (2000) 1.56
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet (2002) 1.56
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol (2001) 1.55
Dopaminergic neurotransmission and restless legs syndrome: a genetic association analysis. Neurology (2001) 1.54
Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology (2000) 1.51
Association of apolipoprotein E genotype with brain levels of apolipoprotein E and apolipoprotein J (clusterin) in Alzheimer disease. Brain Res Mol Brain Res (1995) 1.50
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology (1996) 1.50
Facilitating submental endotracheal intubation with an endotracheal tube exchanger. Anesth Analg (2000) 1.49
Neurologic crises in hereditary tyrosinemia. N Engl J Med (1990) 1.48
Patterns of gene expression in the limbic system of suicides with and without major depression. Mol Psychiatry (2007) 1.47
Anticipation in familial cavernous angioma: ascertainment bias or genetic cause. Acta Neurol Scand (1998) 1.46
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci (1978) 1.43
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet (1994) 1.42
Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet (2000) 1.42
Recombinant congenic strains derived from A/J and C57BL/6J: a tool for genetic dissection of complex traits. Genomics (2001) 1.42
Genome-wide association study of Tourette's syndrome. Mol Psychiatry (2012) 1.42
[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]. Neurologia (2004) 1.42
Ecogenetics of Parkinson's disease: 4-hydroxylation of debrisoquine. Lancet (1985) 1.41
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry (2011) 1.40
Unusual multicystic lesions of the brainstem are mesencephalo-thalamic expanding lacunae. Br J Neurosurg (1997) 1.40
Lack of association between bipolar disorder and tyrosine hydroxylase: a meta-analysis. Am J Med Genet (1997) 1.40
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. Clin Genet (2011) 1.39
Atypical MR presentation of Wilson disease: a possible consequence of paramagnetic effect of copper? Neuroradiology (1992) 1.38
A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians. Am Heart J (2001) 1.37
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology (1996) 1.36
Priorities in adolescent health care: the teenager's viewpoint. J Fam Pract (1987) 1.33
Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton. J Cell Sci (1997) 1.33
Role of the striatum, cerebellum, and frontal lobes in the learning of a visuomotor sequence. Brain Cogn (1997) 1.32
Schizophrenia and chromosome 6p. Am J Med Genet (1997) 1.31
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet (2001) 1.30
Acute myeloradiculitis due to cytomegalovirus as the initial manifestation of AIDS. J Neurol Neurosurg Psychiatry (1989) 1.29
Task-specific physical therapy for optimization of gait recovery in acute stroke patients. Arch Phys Med Rehabil (1993) 1.28
Vertebral hemangiomas presenting with neurologic symptoms. Surg Neurol (1987) 1.28
Cerebral cavernous malformations: mutations in Krit1. Neurology (2002) 1.27
Oculopharyngeal muscular dystrophy. Semin Neurol (1999) 1.27
Cholesterol and APOE genotype interact to influence Alzheimer disease progression. Neurology (2004) 1.27
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol (2002) 1.26
[Ultrastructure of hem- angioblastomas of the central nervous system]. Rev Neurol (Paris) (1968) 1.25
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum Genet (1995) 1.25
Human myoblast transplantation: preliminary results of 4 cases. Muscle Nerve (1992) 1.23
Evidence for an interaction between apolipoprotein E genotype, gender, and Alzheimer disease. Alzheimer Dis Assoc Disord (2000) 1.21
Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study. Acta Neuropathol (1977) 1.20
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum Mol Genet (1995) 1.20
Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease. Hum Mol Genet (1998) 1.20
Antitumour activity of ANG1005, a conjugate between paclitaxel and the new brain delivery vector Angiopep-2. Br J Pharmacol (2008) 1.20
Treatment outcome of tacrine therapy depends on apolipoprotein genotype and gender of the subjects with Alzheimer's disease. Neurology (1998) 1.19
The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet (1994) 1.19
OLIG2 as a specific marker of oligodendroglial tumour cells. Lancet (2001) 1.19
Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum Mol Genet (2001) 1.19
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA. Hum Mol Genet (1993) 1.19
Role of cellular zinc in programmed cell death: temporal relationship between zinc depletion, activation of caspases, and cleavage of Sp family transcription factors. Biochem Pharmacol (2001) 1.18