Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.

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Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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Evidence of early defects in C ...... e model of dystroglycanopathy.

@en

Evidence of early defects in C ...... e model of dystroglycanopathy.

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label

Evidence of early defects in C ...... e model of dystroglycanopathy.

@en

Evidence of early defects in C ...... e model of dystroglycanopathy.

@nl

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Evidence of early defects in C ...... e model of dystroglycanopathy.

@en

Evidence of early defects in C ...... e model of dystroglycanopathy.

@nl

P1476

Evidence of early defects in C ...... se model of dystroglycanopathy

@en

P2093

H S Booler

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J L Williams

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S C Brown

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V Pagalday-Vergara

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P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

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

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

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

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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

P304

330-345

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P31

scholarly article

P356

10.1111/NAN.12376

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P433

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P478

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P50

M Hopkinson

P577

2017-03-24T00:00:00Z

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P698

28039900

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