Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? - Wikidata - awgldk - TriplyDB

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

http://www.wikidata.org/entity/Q46160898

about

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes The genetics of cerebellar malformations Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy Clinical, 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.

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P2860

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

http://www.wikidata.org/entity/Q46160898

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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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?

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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?

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Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

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Andrea Klein

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Arpad von Moers

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Bastian Baumgartner

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Filippo M Santorelli

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Joachim Weis

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Klaus Zerres

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Martin Häusler

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Thierry A G M Huisman

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P2860

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis.

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1

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13

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Enza Maria Valente

Eugen Boltshauser

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2014-02-01T00:00:00Z

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256469439

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