Detalhe da pesquisa
1.
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy.
Thorax
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38729626
2.
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.
Thorax
; 79(5): 476-485, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123347
3.
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Neuropediatrics
; 54(3): 211-216, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693417
4.
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Dysphagia
; 38(6): 1568-1580, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289231
5.
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Muscle Nerve
; 65(1): 67-74, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606104
6.
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.
Dev Med Child Neurol
; 64(8): 979-988, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385138
7.
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.
Biochem Biophys Res Commun
; 458(3): 601-604, 2015 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25680467
8.
Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy.
Sleep Med
; 115: 61-65, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330697
9.
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Biochem Biophys Res Commun
; 430(1): 241-4, 2013 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146629
10.
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing.
Eur Respir J
; 52(4)2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30115615
11.
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.
J Clin Med
; 12(24)2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137621
12.
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy.
Neurology
; 99(12): e1216-e1226, 2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35953292
13.
Feasibility and parental perception of home sleep studies during COVID-19: a tertiary sleep centre experience.
Arch Dis Child
; 107(2): 189-191, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34551900
14.
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.
Neuromuscul Disord
; 31(2): 101-112, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454188
15.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Neurology
; 96(4): e587-e599, 2021 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067401
16.
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities.
Sleep Med
; 68: 173-176, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32044554
17.
Inflammation in children with neuromuscular disorders and sleep disordered breathing.
Sleep Med
; 72: 118-121, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32615459
18.
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Chest
; 158(4): 1606-1616, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387519
19.
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 7(5): 786-798, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32343055
20.
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial.
J Telemed Telecare
; 25(7): 414-424, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29865934