Detalhe da pesquisa
1.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
2.
Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.
Eur J Pediatr
; 183(1): 83-93, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924348
3.
Predicting non-response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities.
Dev Med Child Neurol
; 2023 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140924
4.
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.
Eur J Pediatr
; 182(8): 3789-3793, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272991
5.
Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.
Acta Paediatr
; 112(11): 2434-2439, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551152
6.
Dysphagia limit in children with cerebral palsy aged 4 to 12 years.
Dev Med Child Neurol
; 64(2): 253-258, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418067
7.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clin Genet
; 100(6): 692-702, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463354
8.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
BMC Neurol
; 21(1): 313, 2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384384
9.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
10.
Posterior drooling in children with cerebral palsy and other neurodevelopmental disorders.
Dev Med Child Neurol
; 63(9): 1093-1098, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33844298
11.
Changes in severity and impact of drooling after submandibular gland botulinum neurotoxin A injections in children with neurodevelopmental disabilities.
Dev Med Child Neurol
; 62(3): 354-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729034
12.
Submandibular duct ligation after botulinum neurotoxin A treatment of drooling in children with cerebral palsy.
Dev Med Child Neurol
; 62(7): 861-867, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32149393
13.
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Ann Neurol
; 84(5): 627-637, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30179273
14.
Submandibular gland botulinum neurotoxin A injection for predicting the outcome of submandibular duct relocation in drooling: a retrospective cohort study.
Dev Med Child Neurol
; 61(11): 1323-1328, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30854648
15.
Effectiveness of submandibular duct relocation in 91 children with excessive drooling: A prospective cohort study.
Clin Otolaryngol
; 43(6): 1471-1477, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29989346
16.
Negative effects of submandibular botulinum neurotoxin A injections on oral motor function in children with drooling due to central nervous system disorders.
Dev Med Child Neurol
; 59(5): 531-537, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27901263
17.
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
BMC Neurol
; 16: 138, 2016 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530735
18.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1073-81, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176823
19.
Best practice recommendations for speech-language pathology in children with neuromuscular disorders: A Delphi-based consensus study.
Int J Speech Lang Pathol
; 26(1): 45-58, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896919
20.
Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.
Eur J Paediatr Neurol
; 48: 30-39, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008001