Detalhe da pesquisa
1.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
J Neurol Neurosurg Psychiatry
; 95(2): 103-113, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041679
2.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
J Neurol Neurosurg Psychiatry
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383154
3.
Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants.
Muscle Nerve
; 69(6): 682-690, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517116
4.
Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study.
Muscle Nerve
; 70(1): 130-139, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38738747
5.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Brain
; 146(10): 4191-4199, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170631
6.
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.
Mov Disord
; 38(1): 45-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308733
7.
A-waves are associated with neuropathic pain in leprosy.
Muscle Nerve
; 67(2): 165-168, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420641
8.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Ann Neurol
; 90(2): 239-252, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048612
9.
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.
Ann Neurol
; 90(4): 570-583, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435700
10.
Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia.
Mov Disord
; 37(2): 354-364, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713932
11.
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.
Mov Disord
; 36(7): 1644-1653, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576112
12.
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Mov Disord
; 36(9): 2027-2035, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893680
13.
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.
Mov Disord
; 36(7): 1654-1663, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595142
14.
Laryngeal electromyography in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 91(7): 730-732, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317399
15.
Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.
J Neurol Neurosurg Psychiatry
; 91(1): 49-57, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690697
16.
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Clin Genet
; 96(4): 341-353, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268554
17.
Structural signature of SCA3: From presymptomatic to late disease stages.
Ann Neurol
; 84(3): 401-408, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014526
18.
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.
Cerebellum
; 18(6): 1143-1146, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243663
19.
Sensory ataxia rating scale: Development and validation of a functional scale for patients with sensory neuronopathies.
J Peripher Nerv Syst
; 24(3): 242-246, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222873
20.
Sensory neuronopathy heralding human T cell lymphotropic virus type I myelopathy.
J Neurovirol
; 24(3): 369-371, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29318453