Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination | Zendy

David Margolin | Zendy; Maria Kousi | Zendy; Yee-Ming Chan | Zendy; Elaine T. Lim | Zendy; Jeremy D. Schmahmann | Zendy; Marios Hadjivassiliou | Zendy; Janet E. Hall | Zendy; Ibrahim Ismael Adam | Zendy; Andrew Dwyer | Zendy; Lacey Plummer | Zendy; Stephanie V. Aldrin | Zendy; Julia O’Rourke | Zendy; Andrew Kirby | Zendy; Kasper Lage | Zendy; Aubrey Milunsky | Zendy; Jeff M. Milunsky | Zendy; Jennifer A. Chan | Zendy; E. Tessa HedleyWhyte | Zendy; Mark J. Daly | Zendy; Nicholas Katsanis | Zendy; Stephanie B. Seminara | Zendy

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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

Author(s) -

David Margolin,

Maria Kousi,

Yee-Ming Chan,

Elaine T. Lim,

Jeremy D. Schmahmann,

Marios Hadjivassiliou,

Janet E. Hall,

Ibrahim Ismael Adam,

Andrew Dwyer,

Lacey Plummer,

Stephanie V. Aldrin,

Julia O’Rourke,

Andrew Kirby,

Kasper Lage,

Aubrey Milunsky,

Jeff M. Milunsky,

Jennifer A. Chan,

E. Tessa HedleyWhyte,

Mark J. Daly,

Nicholas Katsanis,

Stephanie B. Seminara

Publication year - 2013

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1215993

Subject(s) - ataxia , hypogonadotropic hypogonadism , compound heterozygosity , genetics , exome sequencing , frontotemporal dementia , exome , zebrafish , biology , medicine , neurodegeneration , mutation , ubiquitin ligase , ubiquitin , dementia , endocrinology , neuroscience , gene , disease , hormone

The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive.

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