Detalhe da pesquisa
1.
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Ann Neurol
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613459
2.
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy.
Thorax
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38729626
3.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203352
4.
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
5.
Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.
Muscle Nerve
; 69(3): 340-348, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238963
6.
Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.
Muscle Nerve
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482981
7.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656662
8.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
; 146(3): 806-822, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445400
9.
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.
Brain
; 146(1): 252-265, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136951
10.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
; 146(10): 4025-4032, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337674
11.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
12.
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
J Peripher Nerv Syst
; 28(2): 237-251, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748295
13.
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
J Peripher Nerv Syst
; 28(3): 382-389, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166413
14.
Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
Exp Cell Res
; 411(1): 112906, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740639
15.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
16.
Dystrophin deficiency affects human astrocyte properties and response to damage.
Glia
; 70(3): 466-490, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773297
17.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol
; 48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648194
18.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathol
; 144(3): 537-563, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844027
19.
A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment.
J Neurol Neurosurg Psychiatry
; 93(12): 1276-1288, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190933
20.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588