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Marc Corral-Juan

Explore the profile of Marc Corral-Juan including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 232
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Recent Articles
1.
Sanchez-Flores M, Corral-Juan M, Gasch-Navalon E, Cirillo D, Sanchez I, Matilla-Duenas A
Hum Genet . 2024 Feb; 143(3):211-232. PMID: 38396267
Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure cerebellar syndrome. SCA37 patients carry a pathogenic intronic (ATTTC)n...
2.
Martins S, Yahia A, Costa I, Siddig H, Abubaker R, Koko M, et al.
Hum Genet . 2023 Nov; 142(12):1747-1754. PMID: 37957369
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese...
3.
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Pineiro A, Mateo-Montero R, et al.
Brain Commun . 2022 Mar; 4(2):fcac030. PMID: 35310830
Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced...
4.
Manrique L, Sanchez-Rodriguez A, Pelayo-Negro A, Corral-Juan M, Matilla-Duenas A, Infante J
Mov Disord Clin Pract . 2021 Aug; 8(6):969-971. PMID: 34405108
No abstract available.
5.
Delgado-Alvarado M, Matilla-Duenas A, Altadill-Bermejo A, Setien S, Misiego-Peral M, Sanchez-de la Torre J, et al.
Neurol Sci . 2020 Sep; 41(12):3779-3781. PMID: 32955639
Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than...
6.
Infante J, Serrano-Cardenas K, Corral-Juan M, Farre X, Sanchez I, de Lucas E, et al.
J Neurol . 2019 Oct; 267(2):324-330. PMID: 31637490
Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new...
7.
Dominguez-Ruiz M, Garcia-Martinez A, Corral-Juan M, Perez-Alvarez A, Plasencia A, Villamar M, et al.
J Transl Med . 2019 Aug; 17(1):290. PMID: 31455392
Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment....
8.
Nieto A, Perez-Flores J, Corral-Juan M, Matilla-Duenas A, Martinez-Burgallo F, Monton F
Neurocase . 2019 Aug; 25(5):195-201. PMID: 31423897
Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutation in the anoctamin 10 gene is infrequent and little is known about its cognitive profile. Three siblings...
9.
Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, et al.
Brain . 2018 Jun; 141(7):1981-1997. PMID: 29939198
The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia,...
10.
Matilla-Duenas A, Corral-Juan M, Seuma A, Vilas D, Ispierto L, Morais S, et al.
Adv Exp Med Biol . 2017 Dec; 1031:443-496. PMID: 29214587
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity...