Detalhe da pesquisa
1.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
2.
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis.
Acta Neuropathol
; 146(5): 725-745, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773216
3.
[Neurological complications of hepatitis C infections]. / Neurologische Komplikationen der Hepatitis-C-Infektion.
Nervenarzt
; 92(2): 144-149, 2021 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-33001263
4.
Inositol 1,4,5-trisphosphate receptor type 1 autoantibodies in paraneoplastic and non-paraneoplastic peripheral neuropathy.
J Neuroinflammation
; 13(1): 278, 2016 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776522
5.
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
Int J Legal Med
; 130(3): 783-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26753873
6.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Brain Pathol
; 34(1): e13200, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581289
7.
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
8.
Severe generalised rhabdomyolysis with fatal outcome associated with isotretinoin.
Int J Legal Med
; 126(6): 953-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22895802
9.
Vasculitic multiplex mononeuritis: polyarteritis nodosa versus cryoglobulinemic vasculitis.
Rheumatol Int
; 32(8): 2543-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20401485
10.
Characteristic clinical and ultrastructural findings in nesprinopathies.
Eur J Paediatr Neurol
; 23(2): 254-261, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626539
11.
Disruption of excitatory amino acid transporters in brains of SIV-infected rhesus macaques is associated with microglia activation.
J Neurochem
; 104(1): 202-9, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17986224
12.
Memantine upregulates BDNF and prevents dopamine deficits in SIV-infected macaques: a novel pharmacological action of memantine.
Neuropsychopharmacology
; 33(9): 2228-36, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17971830
13.
HIV-1-associated neurocognitive disorder: epidemiology, pathogenesis, diagnosis, and treatment.
J Neurol
; 264(8): 1715-1727, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28567537
14.
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
Neuromuscul Disord
; 16(11): 749-53, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17005396
15.
Supracubital perineurioma misdiagnosed as carpal tunnel syndrome: case report.
BMC Neurol
; 4(1): 19, 2004 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15555068
16.
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Orphanet J Rare Dis
; 9: 121, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25208129
17.
Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?
J Child Neurol
; 27(2): 229-33, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21968981
18.
Clinical improvement precedes lesion size regression in a severe case of acute disseminated encephalomyelitis.
BMJ Case Rep
; 20122012 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23175006
19.
Inclusion body myositis in a patient with long standing rheumatoid arthritis treated with anti-TNFalpha and rituximab.
Clin Rheumatol
; 29(5): 555-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108015
20.
Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome.
J Neurol
; 250(12): 1501-2, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14673589