Detalhe da pesquisa
1.
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
Eur J Neurol
; 26(8): 1111-1120, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30884027
2.
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading.
J Neuromuscul Dis
; 11(1): 25-57, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37980679
3.
Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients.
Neuromuscul Disord
; 33(7): 575-579, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354872
4.
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists.
J Neuromuscul Dis
; 9(6): 765-775, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36120788
5.
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Ann Neurol
; 68(5): 717-26, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20839240
6.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
J Neurol Neurosurg Psychiatry
; 87(6): 680-1, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26105173
7.
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.
Eur J Neurol
; 23(8): e56-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27431030
8.
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 8(6): 899-926, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34511509
9.
McArdle disease: a clinical review.
J Neurol Neurosurg Psychiatry
; 81(11): 1182-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20861058
10.
The role of lactate in the exercise-induced human growth hormone response: evidence from McArdle disease.
Br J Sports Med
; 43(7): 521-5, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18184755
11.
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
J Neurol
; 266(4): 876-887, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788618
12.
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).
Cochrane Database Syst Rev
; (2): CD003458, 2008 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425888
13.
Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints.
J Neuromuscul Dis
; 5(3): 353-357, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30103350
14.
Pharmacological and nutritional treatment trials in McArdle disease.
Acta Myol
; 26(1): 58-60, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17915572
15.
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines.
J Neuromuscul Dis
; 9(3): 365-381, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35124658
16.
The use of stock orthoses to assist gait in neuromuscular disorders: a pilot study.
Prosthet Orthot Int
; 30(2): 145-54, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16990225
17.
Investigating sodium valproate as a treatment for McArdle disease in sheep.
Neuromuscul Disord
; 25(2): 111-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25455802
18.
Cardiac transplantation in Becker muscular dystrophy.
Neuromuscul Disord
; 2(3): 165-7, 1992.
Artigo
em Inglês
| MEDLINE | ID: mdl-1483041
19.
Congenital sensory neuropathy in association with ichthyosis and anterior chamber cleavage syndrome.
Neuromuscul Disord
; 3(3): 217-21, 1993 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8400862
20.
Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy.
Neuromuscul Disord
; 6(4): 237-46, 1996 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8887952