Detalhe da pesquisa
1.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823706
2.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
; 55(1): 48-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28626029
3.
Mutations in CSPP1 lead to classical Joubert syndrome.
Am J Hum Genet
; 94(1): 80-6, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360807
4.
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Hum Genet
; 135(8): 919-921, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245168
5.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Am J Hum Genet
; 92(3): 468-74, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23472759
6.
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Am J Med Genet A
; 170A(4): 992-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001912
7.
Development of the Motor Periphery is the Rate-Limiting Step in the Ontogeny of the Vestibulo-ocular Reflex.
bioRxiv
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798369
8.
Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization.
bioRxiv
; 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328255
9.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28092684
10.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Nat Genet
; 47(7): 809-13, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005868
11.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nat Genet
; 47(5): 528-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848753
12.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
; 343(6170): 506-511, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482476