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Catherine Mamah
Researcher at University of California, Los Angeles
Publications - 2
Citations - 159
Catherine Mamah is an academic researcher from University of California, Los Angeles. The author has contributed to research in topics: Spinocerebellar ataxia & Cerebellar ataxia. The author has an hindex of 2, co-authored 2 publications receiving 146 citations. Previous affiliations of Catherine Mamah include Johns Hopkins University.
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Journal ArticleDOI
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Sandy Chan Hsu,Renee L. Sears,R. R. Lemos,Beatriz Quintáns,Alden Y. Huang,Elizabeth Spiteri,Elizabeth Spiteri,Lisette Nevarez,Catherine Mamah,Catherine Mamah,Mayana Zatz,Kerrie D. Pierce,Janice M. Fullerton,Janice M. Fullerton,John C. Adair,Jon E. Berner,Matthew Bower,Henry Brodaty,Olga Carmona,Valerija Dobricic,Brent L. Fogel,Daniel García-Estevez,Jill Goldman,John L. Goudreau,Suellen Hopfer,Suellen Hopfer,Milena Jankovic,Serge Jaumà,Joanna C. Jen,Suppachok Kirdlarp,Joerg Klepper,Vladimir S. Kostic,Anthony E. Lang,Agnès Linglart,Melissa K. Maisenbacher,Bala V. Manyam,Pietro Mazzoni,Z. Miedzybrodzka,Witoon Mitarnun,Philip B. Mitchell,Jennifer Mueller,Ivana Novakovic,Martin Paucar,Henry L. Paulson,Sheila A Simpson,Per Svenningsson,Paul J. Tuite,Jerrold L. Vitek,Suppachok Wetchaphanphesat,Charles A. Williams,Michele Yang,Michele Yang,Peter R. Schofield,Peter R. Schofield,João Ricardo Mendes de Oliveira,María Jesús Sobrido,Daniel H. Geschwind,Giovanni Coppola +57 more
TL;DR: It is demonstrated that mutations in SLC20A2 are a major cause of familial IBGC, and non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
Journal ArticleDOI
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Brent L. Fogel,Ji Yong Lee,Jessica Lane,Amanda Wahnich,Sandy Chan,Alden Y. Huang,Greg E. Osborn,Eric Klein,Catherine Mamah,Susan Perlman,Daniel H. Geschwind,Giovanni Coppola +11 more
TL;DR: Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation, and rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage.