Detalhe da pesquisa
1.
HLA-DQB1*05 subtypes and not DRB1*10:01 mediates risk in anti-IgLON5 disease.
Brain
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425314
2.
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
Neurogenetics
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625442
3.
Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesis.
J Neurol Neurosurg Psychiatry
; 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38844341
4.
FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.
Epilepsia
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752438
5.
Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy.
Muscle Nerve
; 70(1): 71-81, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549445
6.
Biomarkers of neurodegeneration in isolated and antidepressant-related rapid eye movement sleep behavior disorder.
Eur J Neurol
; 31(6): e16260, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409939
7.
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.
Eur J Neurol
; : e16344, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757769
8.
Fabry disease in W162C mutation: a case report of two patients and a review of literature.
BMC Neurol
; 24(1): 113, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38580906
9.
Phosphorylated α-synuclein in skin Schwann cells: a new biomarker for multiple system atrophy.
Brain
; 146(3): 1065-1074, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35552610
10.
Bibrachial amyotrophy as a rare manifestation of intraspinal fluid collection: a case report and systematic review.
Neurol Sci
; 45(5): 2279-2288, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968433
11.
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Am J Kidney Dis
; 82(5): 581-596.e0, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301502
12.
Elevated plasma p-tau181 levels unrelated to Alzheimer's disease pathology in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 94(6): 428-435, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012065
13.
Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases.
Cerebellum
; 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060151
14.
Recurrent Painful Ophthalmoplegic Neuropathy: A case report with atypical features and a review of the literature.
Cephalalgia
; 43(1): 3331024221133386, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694449
15.
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome.
Eur J Neurol
; 30(12): 3834-3841, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531261
16.
Amyloid-Beta Co-Pathology Is a Major Determinant of the Elevated Plasma GFAP Values in Amyotrophic Lateral Sclerosis.
Int J Mol Sci
; 24(18)2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762278
17.
L-Acetylcarnitine causes analgesia in mice modeling Fabry disease by up-regulating type-2 metabotropic glutamate receptors.
Mol Pain
; 18: 17448069221087033, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255745
18.
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Hum Mol Genet
; 29(11): 1864-1881, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984424
19.
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
Mol Genet Metab
; 135(1): 72-81, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916127
20.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220341