Detalhe da pesquisa
1.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
2.
The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings.
Brain
; 143(10): 3104-3120, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32637987
3.
CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive Trajectories.
Mov Disord
; 35(7): 1138-1144, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445500
4.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
5.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
6.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
7.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Am J Hum Genet
; 98(6): 1249-1255, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236917
8.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Hum Mutat
; 39(2): 187-192, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127725
9.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253535
10.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603387
11.
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
12.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain
; 140(4): 940-952, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334956
13.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Ann Neurol
; 79(4): 646-58, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856398
14.
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Ann Neurol
; 79(6): 983-90, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27044000
15.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 88(7): 575-585, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501821
16.
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Cerebellum
; 16(1): 262-267, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26995604
17.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217339
18.
Gene co-expression networks shed light into diseases of brain iron accumulation.
Neurobiol Dis
; 87: 59-68, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26707700
19.
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Mov Disord
; 36(8): 1984-1985, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998058
20.
Reply: Concentric demyelination pattern in COVID-19-associated acute haemorrhagic leukoencephalitis: a lurking catastrophe?
Brain
; 143(12): e101, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33324968