Detalhe da pesquisa
1.
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Doc Ophthalmol
; 146(1): 7-16, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399172
2.
The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.
Muscle Nerve
; 63(6): 812-817, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501999
3.
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Muscle Nerve
; 62(5): 626-632, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32914449
4.
Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Neuromuscul Disord
; 33(6): 523-530, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37247532
5.
Diagnostic delay in patients with FKRP-related muscular dystrophy.
Neuromuscul Disord
; 31(12): 1235-1240, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857438
6.
Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Neurology
; 95(15): e2131-e2139, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764098
7.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat
; 30(12): 1657-66, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19937601
8.
Illness-associated muscle weakness in dystroglycanopathies.
Neurology
; 89(23): 2374-2380, 2017 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29101272
9.
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Neurology
; 88(7): 623-629, 2017 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087826
10.
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
J Child Neurol
; 32(2): 204-209, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27872178
11.
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.
Neurology
; 81(16): 1374-7, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24042093
12.
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.
J Am Soc Echocardiogr
; 23(8): 848-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20646909