Detalhe da pesquisa
1.
A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.
EMBO J
; 41(5): e108899, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132656
2.
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
3.
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Ann Neurol
; 93(5): 906-910, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891823
4.
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
5.
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
6.
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Brain
; 146(12): 5110-5123, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542466
7.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947133
8.
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
9.
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
10.
Advances in diagnosis and management of distal sensory polyneuropathies.
J Neurol Neurosurg Psychiatry
; 94(12): 1025-1039, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997315
11.
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
12.
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
13.
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
Ann Neurol
; 89(2): 369-379, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222249
14.
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
15.
A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 27(1): 50-57, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851050
16.
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
J Peripher Nerv Syst
; 27(2): 127-130, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416371
17.
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Brain
; 144(4): 1197-1213, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889941
18.
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
Neurol Sci
; 43(4): 2759-2764, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34613504
19.
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Hum Mol Genet
; 28(11): 1782-1800, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649465
20.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166