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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 10, 2024. (Total: 234259Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Charcot-marie-tooth Disease Type 1a[original query]
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
Psychiatric genetics 2001 Dec 11 (4): 201-5.
Savi? D, Topisirovi? I, Keckarevi? M, Keckarevi? D, Major T, Culjkovi? B, Stojkovi? O, Rakocevi?-Stojanovi? V, Mladenovi? J, Todorovi? S, Apostolski S, Romac
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
Journal of human genetics 2006 51 (3): 227-35.
Lin Chia-Yun, Su Yi-Ning, Lee Chien-Nan, Hung Chia-Cheng, Cheng Wen-Fang, Lin Win-Li, Chen Chi-An, Hsieh Sung-Tsa
Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.
Neuromuscular disorders : NMD 2018 Apr .
Nam Soo Hyun, Kanwal Sumaira, Nam Da Eun, Lee Min Hee, Kang Tae Hoon, Jung Sung-Chul, Choi Byung-Ok, Chung Ki W
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. GWAS Catalog
Journal of neuromuscular diseases 2019 6 (2): 201-211.
Tao Feifei, Beecham Gary W, Rebelo Adriana P, Blanton Susan H, Moran John J, Lopez-Anido Camila, Svaren John, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan,
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. GWAS Catalog
Annals of neurology 2019 Mar 85 (3): 316-330.
Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan,
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