Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Saved in:
Bibliographic Details
Title: Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Authors: Zambonin JL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. jzambonin@cheo.on.ca., Bellomo A; Greenwood Genetic Center, Greenwood, SC, USA., Ben-Pazi H; Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Frazer LM; Greenwood Genetic Center, Greenwood, SC, USA., Geraghty MT; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Harper AD; Carolinas Healthcare System, Charlotte, NC, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC, USA., Kamien B; Hunter Genetics, Newcastle, NSW, Australia., Kernohan K; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Koenig MK; University of Texas Health Science Center at Houston, Houston, TX, USA., Lines M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Palmer EE; Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia.; University of New South Wales, Randwick, Sydney, Australia., Richardson R; Gillette Children's Specialty Healthcare, St Paul, MN, USA., Segel R; Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel., Tarnopolsky M; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada., Vanstone JR; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Gibbons M; Department of Neurology, Children's Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA., Collins A; Departments of Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA., Fogel BL; Program in Neurogenetics, Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Dudding-Byth T; University of Newcastle Australia, Grow Up Well Priority Research Centre & Hunter Genetics & NSW Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Corporate Authors: Care4Rare Canada Consortium
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jun 28; Vol. 12 (1), pp. 121. Date of Electronic Publication: 2017 Jun 28.
Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/s13023-017-0672-7