Detalhe da pesquisa
1.
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence.
Gene Ther
; 30(1-2): 101-106, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474244
2.
Pulmonary function tests for evaluating the severity of Duchenne muscular dystrophy disease.
Acta Paediatr
; 112(4): 854-860, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36596294
3.
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.
Eur J Neurol
; 29(8): 2420-2430, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510740
4.
The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital.
Neuropediatrics
; 53(5): 370-375, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381604
5.
Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents.
Muscle Nerve
; 61(6): 791-796, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133669
6.
Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years.
Neuropediatrics
; 51(6): 440-444, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32629522
7.
Handwriting in children with Attention Deficient Hyperactive Disorder: role of graphology.
BMC Pediatr
; 19(1): 484, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31823772
8.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29235198
9.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253535
10.
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
Neurogenetics
; 17(4): 251-257, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27631729
11.
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
BMC Med Genet
; 17(1): 82, 2016 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852232
12.
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
Blood
; 121(1): 129-35, 2013 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23149847
13.
Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1.
Eur J Pediatr
; 174(2): 199-203, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25027832
14.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108130
15.
Neurologic complications of thiamine (B1) deficiency following bariatric surgery in adolescents.
Eur J Paediatr Neurol
; 50: 74-80, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705013
16.
Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience.
Pediatr Neurol
; 144: 60-68, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149951
17.
Evaluation of sputum cultures in children with spinal Muscular atrophy.
Respir Med
; 209: 107143, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36764497
18.
Impairments in communication and social interaction in children with neurofibromatosis type 1: Characteristics and role of ADHD and language delay.
Appl Neuropsychol Child
; 11(3): 220-225, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-32569512
19.
Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine.
Eur J Paediatr Neurol
; 40: 40-43, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933829
20.
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients.
Neuromuscul Disord
; 31(7): 607-611, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34053847