Mutations in the IRBIT domain ofITPR1are a frequent cause of autosomal dominant nonprogressive congenital ataxia-Reference-Cited by-同舟云学术

Mutations in the IRBIT domain ofITPR1are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Published:2016-05-11 Issue:1 Volume:91 Page:86-91
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Barresi S.¹²,Niceta M.²,Alfieri P.³,Brankovic V.⁴,Piccini G.³,Bruselles A.⁵,Barone M.R.⁶,Cusmai R.⁷,Tartaglia M.²,Bertini E.¹,Zanni G.¹

Affiliation:

1. Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

2. Genetics and Rare Diseases Research Division; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

3. Department of Neurosciences, Child Neuropsychiatry; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

4. Clinic for Child Neurology and Psychiatry, Medical Faculty; University of Belgrade; Belgrade Serbia

5. Department of Hematology, Oncology and Molecular Medicine; Istituto Superiore di Sanità; Rome Italy

6. Centro ambulatoriale di Riabilitazione; Fondazione Betania Onlus; Catanzaro Italy

7. Department of Neurosciences, Neurology; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12783/fullpdf

Reference27 articles.

1. Non-progressive congenital ataxias;Steinlin;Brain Dev,1998

2. X-linked disorders with cerebellar dysgenesis;Zanni;Orphanet J Rare Dis,2011

3. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia;Huang;Orphanet J Rare Dis,2012

4. De novo point mutations in patients diagnosed with ataxic cerebral palsy;Parolin Schnekenberg;Brain,2015

5. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene;Sasaki;J Neurol,2015

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