Detalhe da pesquisa
1.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937143
2.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
4.
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Brain
; 142(9): 2605-2616, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332438
5.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
6.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
J Med Genet
; 56(8): 499-511, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910913
7.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
; 60(4): 689-706, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866059
8.
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Brain
; 141(9): 2592-2604, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084953
9.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
10.
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hum Mol Genet
; 24(8): 2218-27, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552650
11.
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Brain
; 139(Pt 6): 1723-34, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016404
12.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Brain
; 139(Pt 9): 2420-30, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435091
13.
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Brain
; 139(Pt 5): 1378-93, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27086870
14.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
15.
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Am J Hum Genet
; 92(2): 238-44, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332916
16.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Brain
; 138(Pt 8): 2161-72, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072516
17.
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain
; 138(Pt 11): 3238-50, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384929
18.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
19.
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
BMC Med Genet
; 16: 51, 2015 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189493
20.
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Brain
; 137(Pt 3): 683-92, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459106