Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
about
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesThe genetics of cerebellar malformationsMutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyClinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Cerebellar cysts in children: a pattern recognition approach.Kidney development and perspectives for organ engineering.Terminology in morphological anomalies of the cerebellum does matter.Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.Infantile-onset saccade initiation delay (congenital ocular motor apraxia).Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern.Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
P2860
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P2860
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@en
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@nl
type
label
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@en
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@nl
prefLabel
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@en
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@nl
P2093
P2860
P50
P1433
P1476
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
@en
P2093
Andrea Klein
Arpad von Moers
Bastian Baumgartner
Filippo M Santorelli
Joachim Weis
Klaus Zerres
Martin Häusler
Thierry A G M Huisman
P2860
P2888
P356
10.1007/S12311-013-0521-8
P50
P577
2014-02-01T00:00:00Z