Detalhe da pesquisa
1.
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Neurol Sci
; 45(3): 1225-1231, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37851294
2.
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Neurol Sci
; 44(1): 319-327, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094773
3.
Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.
BMC Neurol
; 22(1): 381, 2022 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209056
4.
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Radiographics
; 39(1): 153-168, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620693
5.
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.
Am J Med Genet A
; 188(12): 3567-3568, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177944
6.
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
J Neurol
; 269(12): 6673-6677, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904593
7.
Pregabalin Responsive Tongue and Arm Tremor after Guillain Barré Syndrome.
Mov Disord Clin Pract
; 10(11): 1705-1706, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982121
8.
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Neurol Genet
; 5(1): e306, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30697592
9.
Multiple endocrine neoplasia type 1 presenting as refractory epilepsy and polyneuropathy--a case report.
J Neurol Sci
; 315(1-2): 172-5, 2012 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22138026
10.
A novel GFAP mutation in a type II (late-onset) Alexander disease patient.
J Neurol
; 263(4): 821-2, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26914930
11.
Did you rule out neurosyphilis?
Dement Neuropsychol
; 4(4): 338-345, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-29213708