Detalhe da pesquisa
1.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol;
145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36799992
2.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol;
88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32926458
3.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Epilepsia;
61(5): 971-983, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32266982
4.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Am J Med Genet A;
179(6): 915-926, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30868735
5.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
J Neuromuscul Dis;
11(3): 647-653, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38489196
6.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol;
2024 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38693632
7.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Ann Clin Transl Neurol;
10(3): 408-425, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36651622
8.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Front Genet;
14: 1135438, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37035729
9.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Front Neurosci;
16: 784880, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35177962
10.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.
Eur J Paediatr Neurol;
31: 92-101, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33711792
11.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Pediatr Neurol;
115: 50-65, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33333461
12.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Pediatr Neurol;
119: 40-44, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33894639
13.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Neurology;
96(10): e1413-e1424, 2021 03 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33441455
14.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Neuromuscul Disord;
30(9): 719-726, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32819792
15.
Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].
Eur J Paediatr Neurol;
37: 167-168, 2022 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34429249