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.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Int J Mol Sci
; 23(19)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232299
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.
Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation.
Am J Med Genet A
; 173(6): 1710-1713, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432720
6.
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
7.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693632
8.
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
9.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
J Neuromuscul Dis
; 10(4): 653-665, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038823
10.
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
11.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Front Neurosci
; 16: 784880, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177962
12.
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
13.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Pediatr Neurol
; 119: 40-44, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894639
14.
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
15.
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
16.
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
17.
[Advances in the treatment of Duchenne muscular dystrophy]. / Avances en el tratamiento de la distrofia de Duchenne.
Medicina (B Aires)
; 79 Suppl 3: 77-81, 2019.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31603849
18.
[Diagnosis and treatment of congenital myopaties]. / Diagnóstico y tratamiento de las miopatías congénitas.
Medicina (B Aires)
; 79 Suppl 3: 82-86, 2019.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31603850
19.
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
20.
[Newborn of mother with HELLP syndrome: characteristics and role of prematurity, low birth-weight and leukopenia in evolution]. / Hijo de madre con síndrome de HELLP: características y papel de la prematuridad, bajo peso y leucopenia en su evolución.
Bol Med Hosp Infant Mex
; 72(5): 318-324, 2015.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29421530