Detalhe da pesquisa
1.
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Hum Mol Genet
; 32(21): 3029-3039, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070754
2.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186601
3.
[Expert recommendations for magnetic resonance imaging of muscle disorders]. / Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen.
Nervenarzt
; 2024 Apr 29.
Artigo
em Alemão
| MEDLINE | ID: mdl-38683354
4.
Computed tomography derived cervical fat-free muscle fraction as an imaging-based outcome marker in patients with acute ischemic stroke: a pilot study.
BMC Neurol
; 23(1): 86, 2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36855093
5.
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
Eur J Neurol
; 29(12): 3486-3507, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971866
6.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
7.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
8.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
9.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
10.
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Brain
; 139(Pt 2): 338-45, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26685157
11.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain
; 136(Pt 2): 494-507, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378224
12.
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Clin Neuropathol
; 33(5): 335-43, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24887401
13.
Missense mutation (C667F) in murine ß-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Dis Model Mech
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616731
14.
[Expert recommendations for magnetic resonance imaging of muscle disorders]. / Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen.
Radiologie (Heidelb)
; 2024 Apr 19.
Artigo
em Alemão
| MEDLINE | ID: mdl-38639916
15.
Morphological and molecular comparison of HIV-associated and sporadic inclusion body myositis.
J Neurol
; 270(9): 4434-4443, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280376
16.
Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
Cells
; 13(1)2023 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38201288
17.
Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.
Neuromuscul Disord
; 32(3): 195-205, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120758
18.
Mitochondrial Retinopathy.
Ophthalmol Retina
; 6(1): 65-79, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257060
19.
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Brain
; 133(10): 2920-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20833645
20.
Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery.
Epilepsy Behav
; 20(1): 38-43, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21145289