Detalhe da pesquisa
1.
High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic.
Can J Neurol Sci
; 50(4): 612-617, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35831924
2.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30827497
3.
The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS).
Childs Nerv Syst
; 37(2): 607-615, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32935233
4.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Am J Hum Genet
; 98(1): 90-101, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26686765
5.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31051109
6.
Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Neuromuscul Disord
; 39: 30-32, 2024 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38723581
7.
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.
Pediatr Pulmonol
; 58(1): 161-170, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36193036
8.
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
Muscle Nerve
; 56(5): E41-E44, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28667691
9.
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care.
Neuromuscul Disord
; 32(3): 206-212, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35216880
10.
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era.
Neurol Clin Pract
; 12(4): 279-287, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-36382115
11.
Natural history of a mouse model of X-linked myotubular myopathy.
Dis Model Mech
; 15(7)2022 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35694952
12.
Signs and Symptoms in Congenital Myopathies.
Semin Pediatr Neurol
; 29: 3-11, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31060723
13.
The genetics of congenital myopathies.
Handb Clin Neurol
; 148: 549-564, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29478600
14.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Mol Genet Genomic Med
; 6(6): 1134-1139, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30381913
15.
Uniparental disomy unveils a novel recessive mutation in POMT2.
Neuromuscul Disord
; 28(7): 592-596, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29759639
16.
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
Neuromuscul Disord
; 27(6): 574-580, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28262468
17.
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Neurol Genet
; 6(3): e423, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32426512
18.
A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.
Neurol Genet
; 3(5): e182, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28852708