Maria-Jesus Sobrido
Overview
Explore the profile of Maria-Jesus Sobrido including associated specialties, affiliations and a list of published articles.
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48
Citations
1050
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Recent Articles
1.
Quelle-Regaldie A, Folgueira M, Yanez J, Sobrido-Camean D, Alba-Gonzalez A, Barreiro-Iglesias A, et al.
Biomedicines
. 2022 Aug;
10(8).
PMID: 36009362
NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An...
2.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, et al.
Mov Disord
. 2022 Feb;
37(6):1175-1186.
PMID: 35150594
Background: Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. Objectives: We investigated the role...
3.
Navas-Sanchez F, Marcos-Vidal L, de Blas D, Fernandez-Pena A, Aleman-Gomez Y, Guzman-De-Villoria J, et al.
J Neurol
. 2022 Jan;
269(6):3189-3203.
PMID: 34999956
Background: SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor neuron disorder characterized by axonal degeneration of the corticospinal tracts and the fasciculus gracilis. The few neuroimaging...
4.
Navas-Sanchez F, de Blas D, Fernandez-Pena A, Aleman-Gomez Y, Lage-Castellanos A, Marcos-Vidal L, et al.
Amyotroph Lateral Scler Frontotemporal Degener
. 2021 Aug;
23(1-2):25-34.
PMID: 34396852
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the gene. HSP is considered an upper motor neuron disorder characterized by progressive retrograde...
5.
Navas-Sanchez F, Fernandez-Pena A, de Blas D, Aleman-Gomez Y, Marcos-Vidal L, Guzman-De-Villoria J, et al.
J Neurol
. 2021 Jan;
268(7):2429-2440.
PMID: 33507371
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive...
6.
McEachin Z, Gendron T, Raj N, Garcia-Murias M, Banerjee A, Purcell R, et al.
Neuron
. 2020 May;
107(2):292-305.e6.
PMID: 32375063
GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and lead to the production of aggregating dipeptide repeat proteins (DPRs) via repeat associated...
7.
Todd T, McEachin Z, Chew J, Burch A, Jansen-West K, Tong J, et al.
Cell Rep
. 2020 May;
31(5):107616.
PMID: 32375043
A GC hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TGC repeat...
8.
Fard M, Rebelo A, Buglo E, Nemati H, Dastsooz H, Gehweiler I, et al.
Am J Hum Genet
. 2019 Jun;
104(6):1251.
PMID: 31173719
No abstract available.
9.
Fard M, Rebelo A, Buglo E, Nemati H, Dastsooz H, Gehweiler I, et al.
Am J Hum Genet
. 2019 Apr;
104(4):767-773.
PMID: 30929741
The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here...
10.
Sobrido M, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson M, et al.
Orphanet J Rare Dis
. 2019 Jan;
14(1):20.
PMID: 30665446
Background: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick...