Detalhe da pesquisa
1.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
2.
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Hum Genet
; 141(3-4): 519-538, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599368
3.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581780
4.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
5.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
6.
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Ann Hum Genet
; 82(1): 23-34, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044474
7.
Clinical decision making in the era of immunotherapy for high grade-glioma: report of four cases.
BMC Cancer
; 18(1): 239, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29490632
8.
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival.
Acta Neuropathol
; 144(1): 155-157, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567606
9.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
10.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
11.
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Genet Mol Biol
; 38(2): 147-51, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26273216
12.
Molecular characterization and survival analysis of a cohort of glioblastoma, IDH-wildtype.
Pathol Res Pract
; 257: 155272, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631135
13.
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Neurol Genet
; 9(1): e200056, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714460
14.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Can J Neurol Sci
; 44(1): 125-127, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748205
15.
Molecular profiling of renal cell carcinoma presenting as iris metastasis.
Am J Ophthalmol Case Rep
; 27: 101599, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35664447
16.
Morphologic and Molecular Aspects of Glioblastomas.
Neurosurg Clin N Am
; 32(2): 149-158, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781498
17.
HHV-6 and hippocampal volume in patients with mesial temporal sclerosis.
Ann Clin Transl Neurol
; 7(9): 1674-1680, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325656
18.
High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma.
Acta Neuropathol Commun
; 8(1): 101, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641156
19.
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
Neuromuscul Disord
; 30(1): 54-58, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866162
20.
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Clin Neurol Neurosurg
; 192: 105734, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065942