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.
Subclinical motor involvement in nonsystemic vasculitic neuropathy determined by the motor unit number estimation method MScanFit.
Muscle Nerve
; 67(6): 474-480, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905193
3.
Botulism after intragastric botulinum toxin injections for weight reduction.
Eur J Neurol
; 30(12): 3979-3981, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584071
4.
Antibody response after COVID-19 vaccination in intravenous immunoglobulin-treated immune neuropathies.
Eur J Neurol
; 29(11): 3380-3388, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842740
5.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
6.
Persistent hypokalaemia and intermittent muscle weakness.
Pract Neurol
; 22(6): 518-520, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907633
7.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum Mutat
; 42(4): 460-472, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600046
8.
Motor unit number estimation in adult patients with spinal muscular atrophy treated with nusinersen.
Eur J Neurol
; 28(9): 3022-3029, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216082
9.
[Neuromuscular complications of SARS-CoV-2 infection-Part 2: muscle disorders]. / Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion Teil 2: Erkrankungen der Muskulatur.
Nervenarzt
; 92(6): 548-555, 2021 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-33779772
10.
[Neuromuscular complications of SARS-CoV-2 infections-Part 1: peripheral nerves]. / Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion Teil 1: periphere Nerven.
Nervenarzt
; 92(6): 540-547, 2021 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-33770191
11.
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
J Hum Genet
; 64(10): 1051-1054, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388109
12.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
J Hum Genet
; 64(8): 803-813, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31165786
13.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat
; 39(9): 1284-1298, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858556
14.
Long-Time Course of Idiopathic Small Fiber Neuropathy.
Eur Neurol
; 79(3-4): 161-165, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518780
15.
Lymphocyte antigens targetable by monoclonal antibodies in non-systemic vasculitic neuropathy.
J Neurol Neurosurg Psychiatry
; 88(9): 756-760, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550073
16.
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
Mov Disord
; 37(5): 1113-1115, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587627
17.
Rapid alterations in MR imaging in MELAS syndrome.
Pract Neurol
; 19(5): 447-448, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292237
18.
Rituximab in non-systemic vasculitic neuropathy: a single-center experience.
J Neurol
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656623
19.
Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies.
J Neurol
; 271(6): 2992-3018, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554150
20.
Multiparametric Monitoring of Disease Progression in Contemporary Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy Initiating Tafamidis Treatment.
J Clin Med
; 13(1)2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38202291