about
Regulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genesUpdate on neuroimaging phenotypes of mid-hindbrain malformations.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Phenotypic and molecular insights into CASK-related disorders in males.Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rateTSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a familyCerebellar cysts in children: a pattern recognition approach.Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
P2860
Q26799208-93C81540-6C8B-43C9-8D11-0C517DD43B3AQ30863712-C9F30259-2C3C-491F-9815-5E576CF63C1DQ33786829-36C3A8AA-A641-448F-A2CC-13C3D8E69ADBQ34516932-0A2E3691-046A-4180-B68D-782D09218130Q35042938-8CB717A1-0542-4353-BC40-E0BF4F0405B3Q35668098-ACE3AFEB-1643-4980-BA67-6E5374A6CDE7Q36082177-DC18EE76-3F0B-4D3C-854A-6B0739BC62C3Q37189269-ED886499-0B32-43C8-9C8E-001304362403Q38287439-2F001632-1880-498A-87E0-28D2376EF817Q38617096-771AFE00-24AD-466B-8FD7-00D14C6FED7FQ41330979-712A1487-B5D5-4BC7-815E-5024236CCB70Q41918697-55B2D87C-FD6E-4487-953F-9E9071BA1967Q46815739-A824924B-A968-4F65-9A81-CDE431BFB010Q47850617-37F8D13C-AC25-4DFD-85F0-264FEDCC1E3EQ48820438-DA4C4B62-0426-4E0B-BAA0-98AE28D66182Q49789382-8DCC13F8-F105-4D1A-84BA-DA660E7F7A48Q52140298-320D6221-5D5F-4FEE-B069-0B0A24ED5966
P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Pontocerebellar hypoplasia.
@ast
Pontocerebellar hypoplasia.
@en
type
label
Pontocerebellar hypoplasia.
@ast
Pontocerebellar hypoplasia.
@en
prefLabel
Pontocerebellar hypoplasia.
@ast
Pontocerebellar hypoplasia.
@en
P2860
P356
P1476
Pontocerebellar hypoplasia.
@en
P2093
Peter G Barth
P2860
P304
P356
10.1002/AJMG.C.31403
P577
2014-06-12T00:00:00Z