Detalhe da pesquisa
1.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
2.
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis.
Ann Neurol
; 92(2): 201-212, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596584
3.
Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.
PLoS Genet
; 16(12): e1009242, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315859
4.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Neuropathol Appl Neurobiol
; 48(1): e12761, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405429
5.
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion.
Neuropathol Appl Neurobiol
; 48(7): e12841, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35894812
6.
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
BMC Neurol
; 22(1): 428, 2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380287
7.
Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center experience.
BMC Cardiovasc Disord
; 22(1): 192, 2022 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35473644
8.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hum Mol Genet
; 28(11): 1919-1929, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715372
9.
Progressive external ophthalmoplegia associated with novel MT-TN mutations.
Acta Neurol Scand
; 143(1): 103-108, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869280
10.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Brain
; 143(8): 2406-2420, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779703
11.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
J Inherit Metab Dis
; 43(5): 1002-1013, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187699
12.
Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or Bystander?
J Card Fail
; 25(1): 60-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30103022
13.
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
J Inherit Metab Dis
; 42(5): 898-908, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31276219
14.
Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis.
Acta Neurol Scand
; 139(2): 177-182, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30347435
15.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
16.
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.
Pediatr Res
; 83(2): 455-465, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981487
17.
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Hum Mol Genet
; 24(13): 3638-50, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25801283
18.
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
J Inherit Metab Dis
; 40(1): 139-149, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718144
19.
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Am J Med Genet A
; 170A(5): 1155-64, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26866830
20.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nat Genet
; 39(9): 1134-9, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17676042