Detalhe da pesquisa
1.
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
Eur J Neurol
; 28(1): 297-304, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32909314
2.
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Genet Med
; 21(9): 2163-2164, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31028354
3.
Survival patterns and cancer determinants in families with myotonic dystrophy type 1.
Eur J Neurol
; 26(1): 58-65, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30051542
4.
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
Clin Genet
; 90(2): 166-70, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27409453
5.
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
Inglês
| MEDLINE | ID: mdl-37980679
6.
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
J Neuromuscul Dis
; 11(3): 579-612, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38669554
7.
The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress.
Neuropathol Appl Neurobiol
; 38(4): 367-78, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21851375
8.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
J Neurol Neurosurg Psychiatry
; 87(6): 680-1, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26105173
9.
Beevor's sign: a potential clinical marker for GNE myopathy.
Eur J Neurol
; 23(8): e46-8, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27431025
10.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
J Neuromuscul Dis
; 8(3): 401-417, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33720849
11.
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada.
J Neuromuscul Dis
; 8(4): 553-568, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33749617
12.
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
J Neuromuscul Dis
; 8(1): 53-61, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-32925088
13.
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
J Neurol Neurosurg Psychiatry
; 81(9): 973-7, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20562457
14.
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Brain
; 132(Pt 1): 147-55, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19015158
15.
Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report.
J Neuromuscul Dis
; 7(4): 523-534, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32538864
16.
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
Brain Dev
; 42(7): 539-545, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32389449
17.
Adenovirus-mediated gene transfer of the tumor suppressor, p53, induces apoptosis in postmitotic neurons.
J Cell Biol
; 135(4): 1085-96, 1996 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-8922388
18.
Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.
Cell Death Differ
; 14(11): 1916-24, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17673919
19.
Late onset in dysferlinopathy widens the clinical spectrum.
Neuromuscul Disord
; 18(4): 288-90, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18396043
20.
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
J Neurol
; 255(11): 1731-6, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18807109