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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
11.
Martin-Hernandez E, Rodriguez-Garcia M, Camacho A, Matilla-Duenas A, Garcia-Silva M, Quijada-Fraile P, et al.
Neurogenetics . 2016 Sep; 17(4):259-263. PMID: 27679995
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES)...
12.
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolas H, Roig C, Corral J, et al.
JAMA Neurol . 2013 May; 70(6):764-71. PMID: 23700170
Importance: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). Objective: To clinically and genetically characterize...
13.
Sanchez I, Pinol P, Corral-Juan M, Pandolfo M, Matilla-Duenas A
Hum Mol Genet . 2013 May; 22(17):3425-37. PMID: 23630944
An expansion of glutamines within the human ataxin-1 protein underlies spinocerebellar ataxia type 1 (SCA1), a dominantly inherited neurodegenerative disorder characterized by ataxia and loss of cerebellar Purkinje neurons. Although...
14.
Matilla-Duenas A, Corral-Juan M, Volpini V, Sanchez I
Adv Exp Med Biol . 2012 Mar; 724:351-74. PMID: 22411256
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia often accompanied by additional cerebellar and noncerebellar...
15.
Martin-Trujillo A, Iglesias-Platas I, Coto E, Corral-Juan M, San Nicolas H, Corral J, et al.
Epigenetics . 2011 Sep; 6(10):1236-41. PMID: 21931279
A fundamental challenge in the post-genomics era is to understand how genetic variants can influence phenotypic variability and disease. Recent observations from a number of studies have highlighted a mechanism...
16.
Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P
Cerebellum . 2009 Nov; 9(2):148-66. PMID: 19890685
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. To...