Detalhe da pesquisa
1.
Magnetic resonance radiomics-derived sphericity correlates with seizure in brain arteriovenous malformations.
Eur Radiol;
34(1): 588-599, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37553487
2.
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Cell Mol Neurobiol;
43(6): 2769-2783, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36580209
3.
Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
Epilepsia;
63(5): 1253-1265, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35213059
4.
Clinical characteristics and long-term outcome of cerebral cavernous malformations-related epilepsy.
Epilepsia;
63(8): 2056-2067, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35593439
5.
Acute withdrawal of new-generation antiepileptic drugs in epilepsy monitoring units: Safety and efficacy.
Epilepsy Behav;
117: 107846, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33626492
6.
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Cell Mol Life Sci;
77(7): 1421-1434, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31728576
7.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol;
86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31187503
8.
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.
Hum Mutat;
40(11): 2088-2107, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31293010
9.
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Epilepsia;
60(5): 807-817, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30980674
10.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain;
140(5): 1252-1266, 2017 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28369220
11.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry;
88(7): 575-585, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28501821
12.
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Cerebellum;
16(1): 262-267, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26995604
13.
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Brain;
138(Pt 4): 845-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25678562
14.
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.
J Neurogenet;
29(2-3): 103-12, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26059699
15.
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
J Neurol Neurosurg Psychiatry;
85(5): 493-8, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24218524
16.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
J Neurol Neurosurg Psychiatry;
85(5): 486-92, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24198383
17.
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
J Neurol Neurosurg Psychiatry;
83(7): 706-10, 2012 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22577229
18.
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Biomed J;
45(3): 542-548, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35660364
19.
Plasma Matrix Metalloproeteinase-9 Is Associated with Seizure and Angioarchitecture Changes in Brain Arteriovenous Malformations.
Mol Neurobiol;
59(10): 5925-5934, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35831556
20.
Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis.
Front Physiol;
10: 338, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31001136