Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference9 articles.
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2. Infantile cerebellar atrophy;Furman;Ann Neurol,1985
3. Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis;Tomiwa;Pediatr Neurol,1987
4. Familial aplasia of the cerebellar vermis: possible X-linked dominant inheritance;Fenichel;Arch Neurol,1989
5. An extended phenotype of an early-onset inherited non-progressive cerebellar ataxia syndrome;Kornberg;J Child Neurol,1991
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1. Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family;The Cerebellum;2017-12-01
2. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia;Orphanet Journal of Rare Diseases;2017-06-28
3. CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes;Molecular Cytogenetics;2016-02-03
4. Inferior vermian hypoplasia - preconception, misconception;Ultrasound in Obstetrics & Gynecology;2014-02
5. Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified In Utero;Journal of Child Neurology;2013-01-23
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