Detalhe da pesquisa
1.
Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.
Mol Cell
; 81(12): 2640-2655.e8, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019811
2.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
3.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Acta Neuropathol
; 147(1): 28, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305941
4.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581130
5.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Brain
; 146(7): 2885-2896, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511878
6.
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
7.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
8.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol
; 145(6): 793-814, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000196
9.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Genet Med
; 24(12): 2487-2500, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136088
10.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
11.
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
12.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Eur J Neurol
; 29(7): 2156-2161, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253317
13.
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
Proc Natl Acad Sci U S A
; 116(39): 19440-19448, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501329
14.
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
Neurobiol Dis
; 156: 105421, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34118419
15.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
16.
The expanding genetic landscape of hereditary motor neuropathies.
Brain
; 143(12): 3540-3563, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33210134
17.
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
18.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
19.
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
20.
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