Detalhe da pesquisa
1.
Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.
PLoS Genet
; 19(2): e1010606, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745687
2.
Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
Mov Disord
; 35(7): 1153-1162, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249994
3.
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
Am J Hum Genet
; 99(5): 1072-1085, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745834
4.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(5): 1038-1046, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153400
5.
Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.
Am J Med Genet B Neuropsychiatr Genet
; 180(6): 335-340, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30378261
6.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
7.
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Hum Mol Genet
; 24(5): 1363-73, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25343993
8.
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Hum Mol Genet
; 21(10): 2211-8, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22337953
9.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(6): 1271, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259058
10.
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Am J Hum Genet
; 89(2): 219-30, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820098
11.
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Brain
; 136(Pt 2): 385-91, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413259
12.
C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.
Can J Neurol Sci
; 41(6): 759-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25377888
13.
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
J Neurosci
; 32(11): 3865-76, 2012 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22423107
14.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Hum Mutat
; 34(2): 385-94, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161826
15.
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Am J Hum Genet
; 87(5): 671-8, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950788
16.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Nat Genet
; 32(3): 384-92, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12368912
17.
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
J Biol Chem
; 286(32): 28456-65, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21628467
18.
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
Hum Mol Genet
; 19(4): 671-83, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959528
19.
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
J Clin Invest
; 118(7): 2496-505, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18521183
20.
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
Hum Mol Genet
; 17(17): 2703-11, 2008 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18566107