Detalhe da pesquisa
1.
Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis.
Neuropathol Appl Neurobiol
; 48(7): e12840, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35894636
2.
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Mov Disord
; 37(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820905
3.
Refining myositis associated with primary Sjögren's syndrome: data from the prospective cohort ASSESS.
Rheumatology (Oxford)
; 60(2): 675-681, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32780813
4.
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Ann Neurol
; 88(2): 274-282, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386344
5.
[Histopathological diagnosis of an intoxication]. / Une intoxication de diagnostic histologique.
Ann Pathol
; 41(6): 549-553, 2021 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-34483010
6.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Hum Mutat
; 41(8): 1394-1406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32419253
7.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116475
8.
Skeletal and Cardiac Muscle Hydroxychloroquine Toxicity.
J Rheumatol
; 51(2): 207, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839814
9.
Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.
Neurobiol Dis
; 118: 155-160, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026036
10.
Metabolomic characterization of human hippocampus from drug-resistant epilepsy with mesial temporal seizure.
Epilepsia
; 59(3): 607-616, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341105
11.
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
Muscle Nerve
; 57(1): 157-160, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120463
12.
Transcriptional Coactivator and Chromatin Protein PC4 Is Involved in Hippocampal Neurogenesis and Spatial Memory Extinction.
J Biol Chem
; 291(39): 20303-14, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27471272
13.
Bilateral gastrocnemius myositis: an extra-intestinal manifestation of Crohn's disease.
Rheumatology (Oxford)
; 61(2): e35-e37, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534274
14.
IFN-ß-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.
Acta Neuropathol
; 134(4): 655-666, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623559
15.
Mitochondrial myopathy caused by arsenic trioxide therapy.
Blood
; 119(18): 4272-4, 2012 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22427206
16.
Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity.
Brain
; 136(Pt 2): 483-93, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23114367
17.
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines
; 12(2)2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397924
18.
Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
J Neurol Neurosurg Psychiatry
; 84(4): 392-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23243264
19.
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple-Source Capture-Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.
Arthritis Rheumatol
; 75(10): 1850-1855, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192377
20.
Disseminated Trichosporon mycotoxinivorans, Aspergillus fumigatus, and Scedosporium apiospermum coinfection after lung and liver transplantation in a cystic fibrosis patient.
J Clin Microbiol
; 50(12): 4168-70, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035187