Paulo Victor Sgobbi de Souza
Overview
Explore the profile of Paulo Victor Sgobbi de Souza including associated specialties, affiliations and a list of published articles.
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Articles
93
Citations
310
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Recent Articles
1.
Souza P, Serrano P, Farias I, Machado R, Badia B, de Oliveira H, et al.
Genes (Basel)
. 2024 Mar;
15(3).
PMID: 38540369
Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic...
2.
Braga V, Moreira H, Fraiman P, Sarmento F, Farias I, Serrano P, et al.
Arq Neuropsiquiatr
. 2024 Feb;
82(2):1-2.
PMID: 38395421
No abstract available.
3.
Machado R, Souza P, Farias I, Badia B, Filho J, Lima R, et al.
J Pediatr Genet
. 2024 Jan;
12(4):301-307.
PMID: 38162165
Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic...
4.
Pinto W, Oliveira A, Carvalho A, Akman H, Souza P
Front Neurol
. 2023 Aug;
14:1255513.
PMID: 37560451
No abstract available.
5.
Nobrega P, Bernardes A, Ribeiro R, Vasconcelos S, Araujo D, de Vasconcelos Gama V, et al.
Front Neurol
. 2023 Jan;
13:1049850.
PMID: 36619921
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the gene. This bile acid metabolism disorder represents a key potentially treatable...
6.
Katler Q, Stepien K, Paull N, Patel S, Adams M, Balci M, et al.
J Inherit Metab Dis
. 2022 Sep;
45(6):1106-1117.
PMID: 36093991
Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of...
7.
Abrantes F, de Moraes M, Filho J, Alencar J, Lopes A, Pinto W, et al.
Arq Neuropsiquiatr
. 2021 Nov;
79(11):1012-1025.
PMID: 34816994
For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial,...
8.
Carvalho A, Chieia M, Farias I, Oliveira A, Pinto W, Souza P
Amyotroph Lateral Scler Frontotemporal Degener
. 2021 Nov;
23(1-2):16-24.
PMID: 34738851
There are three types of autosomal recessive disorders involving pathogenic variants in the gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral...
9.
Pinto W, Souza P, Badia B, Farias I, Filho J, Goncalves E, et al.
Arq Neuropsiquiatr
. 2021 Oct;
79(10):912-923.
PMID: 34706022
Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and...
10.
Pinto W, Araujo Salomao R, Bergamasco N, da Cunha Ribas G, Franco da Graca F, Lopes-Cendes I, et al.
Parkinsonism Relat Disord
. 2021 Oct;
92:67-71.
PMID: 34700111
Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from...