(Q46160898)

20 December 2017

title

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

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20 December 2017

disability affecting intellectual abilities

main subject

disability

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intellectual disability

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1

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20 December 2017

Ginevra Zanni

9

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20 December 2017

Enrico Bertini

14

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20 December 2017

Francesca Moro

Francesca Moro

8

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Chiara Aiello

Chiara Aiello

7

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Enza Maria Valente

Enza Maria Valente

13

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Eugen Boltshauser

15

Eugen Boltshauser

1 reference

20 December 2017

Thierry A.G.M. Huisman

11

Thierry A G M Huisman

1 reference

20 December 2017

Filippo Maria Santorelli

10

Filippo M Santorelli

1 reference

20 December 2017

Bastian Baumgartner

4

Bastian Baumgartner

1 reference

20 December 2017

Arpad von Moers

3

Arpad von Moers

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20 December 2017

author name string

Martin Häusler

2

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20 December 2017

Klaus Zerres

5

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20 December 2017

Andrea Klein

6

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20 December 2017

Joachim Weis

12

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20 December 2017

publication date

1 February 2014

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20 December 2017

published in

The Cerebellum

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20 December 2017

volume

13

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20 December 2017

issue

1

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20 December 2017

page(s)

79-88

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20 December 2017

https://scigraph.springernature.com/pub.10.1007/s12311-013-0521-8

exact match

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cites work

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The ever-expanding spectrum of congenital muscular dystrophies

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

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

21 January 2018

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

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

21 January 2018

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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Joubert syndrome: congenital cerebellar ataxia with the molar tooth

21 January 2018

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

21 January 2018

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Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

21 January 2018

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

21 January 2018

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Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

21 January 2018

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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 January 2018

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

21 January 2018

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21 January 2018

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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

Congenital ocular motor apraxia: imaging findings.

1 reference

12 December 2020

Brain MR in Fukuyama congenital muscular dystrophy.

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12 December 2020

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12 December 2020

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12 December 2020

10.1007/S12311-013-0521-8

Identifiers

DOI

1 reference

20 December 2017

1 reference

20 December 2017