Published in Am J Hum Genet on February 01, 1999
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One (2009) 1.23
Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res (2011) 1.18
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Low-voltage-activated ("T-Type") calcium channels in review. J Bioenerg Biomembr (2003) 1.06
Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Mov Disord (2010) 1.04
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet (2000) 1.01
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet (2000) 0.89
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics (Sao Paulo) (2012) 0.83
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet (1999) 0.77
Genetic and molecular aspects of spinocerebellar ataxias. Neuropsychiatr Dis Treat (2005) 0.75
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet (1993) 7.97
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet (1994) 7.07
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet (1997) 4.12
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet (1994) 3.89
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature (1995) 2.92
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet (1993) 1.71
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet (1997) 1.35
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol (1997) 1.29
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet (1995) 1.27
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet (1995) 1.26
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet (1996) 1.25
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet (1995) 1.17
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet (1996) 1.06
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet (1997) 1.04
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet (1998) 0.98
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology (1998) 0.97
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet (1995) 0.96
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet (1998) 0.90
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum Genet (1997) 0.83
Targeted disruption of SHIP leads to hemopoietic perturbations, lung pathology, and a shortened life span. Genes Dev (1998) 3.40
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet (2000) 2.60
The informatics superhighway: prototyping on the World Wide Web. Proc Annu Symp Comput Appl Med Care (1995) 2.59
A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet (2000) 2.26
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet (2001) 2.10
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet (2001) 1.79
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol (1999) 1.77
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet (1990) 1.71
The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery (1996) 1.67
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet (2000) 1.67
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet (1992) 1.63
Thermographic assessment of impaired sympathetic function in peripheral nerve injuries. J Neurol (1981) 1.48
The effects of multiple-strand suture methods on the strength and excursion of repaired intrasynovial flexor tendons: a biomechanical study in dogs. J Hand Surg Am (1998) 1.38
Identification and expression of a mouse ortholog of A2BP1. Mamm Genome (2001) 1.36
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet (1997) 1.35
Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol (1995) 1.26
Human acetyltransferase polymorphisms. Mutat Res (1997) 1.21
Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Nat Genet (1998) 1.16
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology (1997) 1.10
The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. Genomics (1989) 1.10
Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Dev Biol (1994) 1.09
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet (2000) 1.09
Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol (1998) 1.08
Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum Genet (1991) 1.07
Screening for mutations in synaptotagmin XI in Parkinson's disease. J Neural Transm Suppl (2004) 1.07
SCA8 repeat expansions in ataxia: a controversial association. Neurology (2001) 1.06
Neurofibromatosis 2 in the pediatric age group. Neurosurgery (1993) 1.05
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology (1999) 1.05
The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J Mol Neurosci (2000) 1.04
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Age of menarche in various categories of Indian sportswomen. Br J Sports Med (1980) 1.01
Comparative evaluation of bone marrow aspirate particle smears, imprints and biopsy sections. J Postgrad Med (1990) 1.01
Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol (1995) 0.99
Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol (1997) 0.98
Rituximab for autoimmune haemophilia: a proposed treatment algorithm. Haemophilia (2005) 0.98
Parkin is associated with actin filaments in neuronal and nonneural cells. Ann Neurol (2000) 0.98
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology (1998) 0.97
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet (1998) 0.95
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet (1994) 0.95
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? Neurology (2005) 0.94
Anticipation in spinocerebellar ataxia type 2. Nat Genet (1993) 0.94
Immunocytochemical characterization of torsin proteins in mouse brain. Brain Res (2001) 0.92
Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol (2001) 0.92
Carbon monoxide poisoning with features of Gilles de la Tourette's syndrome. Arch Neurol (1983) 0.91
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. Genomics (1998) 0.91
Down syndrome: toward a molecular definition of the phenotype. Am J Med Genet Suppl (1990) 0.90
Paraneoplastic brainstem encephalitis with acute dystonia and central hypoventilation. J Neurol (1982) 0.90
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Hum Mol Genet (1998) 0.89
CA-repeat polymorphism at the D22S430 locus adjacent to NF2. Hum Mol Genet (1993) 0.88
Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores. Am J Med Genet (1993) 0.88
The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. Hum Mol Genet (2000) 0.88
Neurofibromatosis 2 antisense oligodeoxynucleotides induce reversible inhibition of schwannomin synthesis and cell adhesion in STS26T and T98G cells. Oncogene (1996) 0.87
Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. Am J Med Genet (1994) 0.87
The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the "open" conformation and suppresses cell growth and motility. Hum Mol Genet (2001) 0.87
The effect of partial excision of the A2 and A4 pulleys on the biomechanics of finger flexion. J Hand Surg Br (1998) 0.87
Synthetic mannosides act as acceptors for mycobacterial alpha1-6 mannosyltransferase. Bioorg Med Chem (2001) 0.87
SCA2 trinucleotide expansion in German SCA patients. Neurogenetics (1997) 0.87
High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. Hum Mol Genet (1995) 0.86
Stable ring chromosome 21: molecular and clinical definition of the lesion. Am J Med Genet (1992) 0.86
Sca13. Cerebellum (2008) 0.86
Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet (1996) 0.84
Feasibility of partial A2 and A4 pulley excision: effect on finger flexor tendon biomechanics. J Hand Surg Am (1999) 0.84
Neuronal expression and intracellular localization of presenilins in normal and Alzheimer disease brains. J Neuropathol Exp Neurol (1997) 0.84
Construction and utility of a human chromosome 22-specific Fosmid library. Genet Anal (1995) 0.84
Tensile properties of the interosseous membrane of the human forearm. J Orthop Res (1996) 0.84
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch Neurol (2001) 0.83
Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Hum Mol Genet (1994) 0.83
Differential expression and tissue distribution of parkin isoforms during mouse development. Brain Res Dev Brain Res (2001) 0.83
Impact of the HIV epidemic and Anti-Retroviral Treatment policy on lymphoma incidence and subtypes seen in the Western Cape of South Africa, 2002-2009: preliminary findings of the Tygerberg Lymphoma Study Group. Transfus Apher Sci (2011) 0.83
Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. J Neuropathol Exp Neurol (1997) 0.82
A high-resolution PAC and BAC map of the SCA2 region. Genomics (1997) 0.82
Spinal schwannomatosis. Neurology (1997) 0.81
Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development. Cell Growth Differ (1996) 0.81
Advances in neurofibromatosis 2 (NF2): a workshop report. J Neurogenet (2000) 0.80
[Neurofibromatosis versus schwannomatosis]. Fortschr Neurol Psychiatr (1998) 0.80
External ophthalmoplegia, alpha and spindle coma in imipramine overdose: case report and review of the literature. Ann Neurol (1983) 0.80
Automated acuity scoring within a computer based medical record. Proc Annu Symp Comput Appl Med Care (1992) 0.79
SOLUBLE CD40 LIGAND IN DEMENTIA. Drugs Future (2009) 0.79
Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology (1996) 0.78
Blackened bronchoalveolar lavage fluid in crack smokers. A preliminary study. Am J Clin Pathol (1993) 0.78
Spermatogenic events in rat and mice following intratesticular administration of optical isomers of gossypol. Acta Eur Fertil (1991) 0.78
The SCA12 mutation as a rare cause of spinocerebellar ataxia. Arch Neurol (2001) 0.77
Abiotic stress enhances androgenesis from isolated microspores of some legume species (Fabaceae). J Plant Physiol (2009) 0.77
A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected]. Hum Genet (1995) 0.77
Neuroendocrine bag cells of Aplysia are activated by bag cell peptide-containing neurons in the pleural ganglion. J Neurophysiol (1989) 0.77
Genomes, neuroscience, and neurology. Arch Neurol (2001) 0.77
A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology (1996) 0.77
Expression of neurofibromin, the neurofibromatosis 1 gene product: studies in human neuroblastoma cells and rat brain. Neurosci Lett (1992) 0.77
Avulsion of the tibial tuberosity: muscles too strong for a growth plate. Clin J Sport Med (1997) 0.77
Familial CNS tumors. J Neurol (1992) 0.76
Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations. Neurology (1996) 0.76
Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2. Neurology (1997) 0.75
A comparative study of rural athletes of four states of India. Br J Sports Med (1984) 0.75
Ataxias on the march from Quebec to Tunisia. Neurology (2000) 0.75
NF2 in monozygotic twins. Surg Neurol (2000) 0.75
A study of physical growth in breast-fed and bottle-fed male infants. Indian J Pediatr (1981) 0.75