Umbertina Conti Reed
Overview
Explore the profile of Umbertina Conti Reed including associated specialties, affiliations and a list of published articles.
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55
Citations
360
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Recent Articles
1.
Camelo C, Artilheiro M, Fernandes T, Moreno C, Fonseca A, Reed U, et al.
Clin Neurol Neurosurg
. 2024 Aug;
245:108467.
PMID: 39126899
Background: LAMA2-related dystrophies (LAMA2-RD) are a rare group of neuromuscular disorders with a broad spectrum of phenotype severity, ranging from mild to severe. We performed a cross-sectional study of LAMA2-RD...
2.
Camelo C, Artilheiro M, Moreno C, Ferraciolli S, Serafim Silva A, Fernandes T, et al.
J Neuromuscul Dis
. 2023 May;
10(4):483-492.
PMID: 37182895
Background: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not...
3.
Camelo C, Moreno C, Artilheiro M, Serafim Silva A, Fonseca A, Mendonca de Holanda R, et al.
Pediatr Neurol
. 2023 Mar;
143:1-5.
PMID: 36934516
Background: Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date. Methods: A retrospective cohort study...
4.
Moreno C, Artilheiro M, Fonseca A, Camelo C, Medeiros G, Sassi F, et al.
Neurol Genet
. 2023 Jan;
9(1):e200056.
PMID: 36714460
Background And Objectives: Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in gene are the most common genetic cause. The...
5.
Moreno C, Camelo C, Sampaio P, Fonseca A, de Paula Estephan E, Serafim Silva A, et al.
Arq Neuropsiquiatr
. 2022 Aug;
80(6):563-569.
PMID: 35946707
Background: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social...
6.
Serafim Silva A, Rodrigo P, Moreno C, Mendonca R, de Paula Estephan E, Camelo C, et al.
J Neuropathol Exp Neurol
. 2022 Jul;
81(9):746-757.
PMID: 35898174
Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart...
7.
Camelo C, Serafim Silva A, Rocha A, Scaramuzzi V, Moreno C, Reed U, et al.
Arq Neuropsiquiatr
. 2021 Apr;
79(3):259-260.
PMID: 33886802
No abstract available.
8.
Mendonca R, Machado L, Heise C, Polido G, Matsui Jr C, Serafim Silva A, et al.
Neuromuscul Disord
. 2021 Apr;
31(6):498-504.
PMID: 33824074
Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss...
9.
Mendonca R, Dos Santos Fernandes H, Pinto R, Matsui Junior C, Polido G, da Silva A, et al.
Arq Neuropsiquiatr
. 2021 Mar;
79(2):127-132.
PMID: 33759979
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity. Nusinersen is an antisense oligonucleotide that increases SMN protein level...
10.
Mendonca R, Polido G, Ciro M, Solla D, Reed U, Zanoteli E
J Neuromuscul Dis
. 2021 Jan;
8(2):217-224.
PMID: 33459657
BackgroundSpinal muscular atrophy type 1 (SMA1) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival.Objective:To report the evaluation of the nusinersen, an antisense oligonucleotide,...