Detalhe da pesquisa
1.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
2.
Novel NALCN variant linked to temporal lobe epilepsy.
Am J Med Genet A
; 191(7): 1942-1947, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046053
3.
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Nature
; 541(7635): 87-91, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002403
4.
Usage of Genetic Panels in an Adult Epilepsy Clinic.
Can J Neurol Sci
; 50(3): 411-417, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35478072
5.
Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?
J Sleep Res
; 31(4): e13537, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913218
6.
TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia.
Brain
; 144(11): 3461-3476, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115105
7.
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase CÉ) impairing TORC2-dependent AKT activation.
Hum Mol Genet
; 26(19): 3713-3721, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934384
8.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334793
9.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Am J Hum Genet
; 98(1): 202-9, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26708751
10.
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Am J Hum Genet
; 96(6): 979-85, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26027498
11.
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Am J Hum Genet
; 97(4): 608-15, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365341
12.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Am J Hum Genet
; 97(6): 886-93, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637978
13.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Am J Med Genet A
; 176(5): 1115-1127, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575569
14.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
15.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
16.
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Hum Mutat
; 38(5): 511-516, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28185376
17.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Neurogenetics
; 18(2): 97-103, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058511
18.
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Hum Mol Genet
; 24(22): 6293-300, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307080
19.
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Hum Mol Genet
; 24(18): 5109-14, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26085578
20.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25105227