5 documents found, page 1 of 1
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
Arruda, Walter Oleschko; Meira, Alex Tiburtino; Ono, Sergio Eiji; Carvalho Neto, Arnolfo de; Betting, Luiz Eduardo Gomes Garcia [UNESP]; Raskin, SalmoMade available in DSpace on 2020-12-10T19:58:10Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-04; Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Demographic data, at...
The genomic landscape of balanced cytogenetic abnormalities associated with hum...
Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, VamseeDespite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting t...
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
Teive, Hélio A. G.; Munhoz, Renato P.; Arruda, Walter O.; Lopes-Cendes, Iscia; Raskin, Salmo; Werneck, Lineu C.; Ashizawa, TetsuoOBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150 patients from 104 families with spinocerebellar ataxia...
Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's dise...
Dias, Francisco A.; Munhoz, Renato P.; Raskin, Salmo; Werneck, Lineu César; Teive, Hélio A. G.OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen rece...
Rett syndrome: Clinical and molecular characterization of two brazilian patients
Raskin, Salmo