White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism - Wikidata - awgldk - TriplyDB

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

http://www.wikidata.org/entity/Q34104949

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Fragile X-associated tremor/ataxia syndrome.Unstable mutations in the FMR1 gene and the phenotypes In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

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P2860

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

http://www.wikidata.org/entity/Q34104949

description

2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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prefLabel

White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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White matter changes in basis ...... ele carriers with parkinsonism

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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White matter changes in basis ...... ele carriers with parkinsonism

@en

P2093

A Venn

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C M Greco

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D Z Loesch

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G Kinsella

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H R Slater

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M Horne

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P2860

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

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502-506

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10.1002/AJMG.B.31189

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4

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156B

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Parkinson's disease

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