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13 results on '"Gonzalo-Martínez Jf"'

2. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide

Author

Miguel González-Muñoz, Catalina I, Capablo Jl, Guitart M, Ramírez-Ramos C, Márquez-Infante C, García-Barcina M, Pablo Villoslada, Ricardo Rojas-García, Hernández-Barral M, Jordi Pérez-Tur, José Luis Muñoz-Blanco, Pau Pastor, Guerrero A, Juárez-Rufián A, Julio Pardo, Varona L, Moreno-Laguna S, Teresa Sevilla, María-Jesús Sobrido, Paradas C, Ana Gorostidi, Beatriz Quintáns, Larrodé P, A. Lleo, Jesús Esteban-Pérez, de Rivera Fj, Alcalá C, López de Munain A, Goñi M, Rafael Blesa, Kapetanovic S, Cordero-Vázquez P, Poza Jj, Pascual-Calvet J, Roberto Fernandez-Torron, Morán Y, Sarasola E, Morgado Y, Gonzalo-Martínez Jf, Atencia G, Mònica Povedano, Mascías J, Cemillán C, Martín-Estefanía C, Alberto García-Redondo, Jordi Clarimón, Jiménez-Bautista R, Rueda A, de Arcaya Aá, Vela A, Ivonne Jericó, Jesus S. Mora, Galán L, Oriol Dols-Icardo, Fundación Española para el Fomento de la Investigación de la Esclerosis Lateral Amiotrófica, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, and Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España)

Subjects
Male, China, Heterozygote, DNA Mutational Analysis, Chromosome 9, Kaplan-Meier Estimate, Biology, Polymorphism, Single Nucleotide, Asian People, Gene Frequency, Japan, C9orf72, Genetics, medicine, Ethnicity, Humans, Genetic Predisposition to Disease, Family history, Allele, Amyotrophic lateral sclerosis, Genetics (clinical), Aged, Aged, 80 and over, DNA Repeat Expansion, C9orf72 Protein, Haplotype, Amyotrophic Lateral Sclerosis, Proteins, medicine.disease, Europe, Haplotypes, Spain, Africa, Mutation, Female, Trinucleotide repeat expansion, Frontotemporal dementia
Abstract

The C9ORF72 Spanish Study Group, et al., A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). We assessed its frequency in 781 sporadic ALS (sALS) and 155 familial ALS (fALS) cases, and in 248 Spanish controls. We tested the presence of the reported founder haplotype among mutation carriers and in 171 Ceph Europeans from Utah (CEU), 170 Yoruba Africans, 81 Han Chinese, and 85 Japanese subjects. The C9orf72 expansion was present in 27.1% of fALS and 3.2% of sALS. Mutation carriers showed lower age at onset (P = 0.04), shorter survival (P = 0.02), greater co-occurrence of FTD (P = 8.2 × 10-5), and more family history of ALS (P = 1.4 × 10-20), than noncarriers. No association between alleles within the normal range and the risk of ALS was found (P = 0.12). All 61 of the mutation carriers were tested and a patient carrying 28 hexanucleotide repeats presented with the founder haplotype. This haplotype was found in 5.6% Yoruba Africans, 8.9% CEU, 3.9% Japanese, and 1.6% Han Chinese chromosomes. © 2012 Wiley Periodicals, Inc., We acknowledge the ALS Research Spanish Foundation (FUNDELA) and the UTE project FIMA (Spain) for their help to P.P. Contract grant sponsors: Neuromuscular Database Project, CIBERNED (PI 2010/11); MICINN (SAF2010-10434); ISCIII (PI10/00092 and EC08/00049).

Published
2013

3. Hipotensión intracraneal idiopática asociada a disrafismo espinal oculto

Author

Gonzalo-Martínez Jf, Martínez de Aragón A, Berenguer-Potenciano M, Bachiller-Carnicero L, and Camacho-Salas A

Subjects
medicine.medical_specialty, business.industry, General Medicine, Lipoma, medicine.disease, Sacrum, Tomography x ray computed, Spina Bifida Cystica, medicine, Back pain, Neurology (clinical), Radiology, Differential diagnosis, medicine.symptom, Intracranial Hypotension, Spinal Neoplasms, business
Published
2015
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5. Allodynia, rigidity and gait disturbance.

Author

Ruiz-Ortiz M, Díaz-Santiáñez M, Azcárate-Díaz FJ, Gonzalo-Martínez JF, Moreno-García S, Ruiz-García R, and Calleja-Castaño P

Abstract

Competing Interests: Competing interests: None declared.

Published
2020
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7. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

Author

De Fuenmayor-Fernández De La Hoz CP, Domínguez-González C, Gonzalo-Martínez JF, Esteban-Pérez J, Fernández-Marmiesse A, Arenas J, Martín MA, and Hernández-Laín A

Subjects
Adult, Electron Transport Complex II genetics, Electron Transport Complex IV genetics, Female, Humans, Microscopy, Electron, Muscle, Skeletal pathology, Muscle, Skeletal ultrastructure, Nerve Fibers pathology, Nerve Fibers ultrastructure, Phenotype, Choline Kinase genetics, Muscular Dystrophies genetics, Mutation genetics
Published
2016
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8. [Idiopathic intracranial hypotension associated with occult spinal dysraphism].

Author

Bachiller-Carnicero L, Berenguer-Potenciano M, Camacho-Salas A, Martínez de Aragón A, and Gonzalo-Martínez JF

Subjects
Accidental Falls, Back Pain etiology, Child, Diagnosis, Differential, Emergencies, Headache etiology, Humans, Hypotension, Orthostatic etiology, Lipoma complications, Lipoma diagnosis, Lipoma diagnostic imaging, Male, Meningocele diagnosis, Sacrum abnormalities, Sacrum diagnostic imaging, Spina Bifida Cystica diagnosis, Spinal Neoplasms complications, Spinal Neoplasms diagnosis, Spinal Neoplasms diagnostic imaging, Tomography, X-Ray Computed, Intracranial Hypotension etiology, Spina Bifida Cystica complications
Published
2015

9. Paraplegia after epidural anaesthesia.

Author

Labiano-Fontcuberta A, Benito-León J, and Gonzalo-Martínez JF

Subjects
Cerebral Arteries pathology, Diffusion Magnetic Resonance Imaging, Female, Hematuria surgery, Humans, Middle Aged, Paraplegia diagnosis, Anesthesia, Epidural adverse effects, Paraplegia chemically induced
Published
2013
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10. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

Author

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, and Lleó A

Subjects
Africa ethnology, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis ethnology, Asian People genetics, C9orf72 Protein, China ethnology, DNA Mutational Analysis, Ethnicity genetics, Europe ethnology, Female, Gene Frequency, Genetic Predisposition to Disease ethnology, Haplotypes, Heterozygote, Humans, Japan ethnology, Kaplan-Meier Estimate, Male, Mutation, Polymorphism, Single Nucleotide, Spain, Amyotrophic Lateral Sclerosis genetics, DNA Repeat Expansion genetics, Genetic Predisposition to Disease genetics, Proteins genetics
Abstract

A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). We assessed its frequency in 781 sporadic ALS (sALS) and 155 familial ALS (fALS) cases, and in 248 Spanish controls. We tested the presence of the reported founder haplotype among mutation carriers and in 171 Ceph Europeans from Utah (CEU), 170 Yoruba Africans, 81 Han Chinese, and 85 Japanese subjects. The C9orf72 expansion was present in 27.1% of fALS and 3.2% of sALS. Mutation carriers showed lower age at onset (P = 0.04), shorter survival (P = 0.02), greater co-occurrence of FTD (P = 8.2 × 10(-5)), and more family history of ALS (P = 1.4 × 10(-20)), than noncarriers. No association between alleles within the normal range and the risk of ALS was found (P = 0.12). All 61 of the mutation carriers were tested and a patient carrying 28 hexanucleotide repeats presented with the founder haplotype. This haplotype was found in 5.6% Yoruba Africans, 8.9% CEU, 3.9% Japanese, and 1.6% Han Chinese chromosomes., (© 2012 Wiley Periodicals, Inc.)

Published
2013
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12. [Clinical and radiological presentation in deep cerebral venous thromboses in adults].

Author

de Pablo-Fernández E, Gonzalo-Martínez JF, Morales-Cartagena CA, Sierra-Hidalgo F, Correas-Callero E, Labiano-Fontcuberta A, and Domínguez-González C

Subjects
Adult, Aged, 80 and over, Fatal Outcome, Female, Humans, Cerebral Veins pathology, Intracranial Thrombosis diagnosis, Intracranial Thrombosis pathology, Intracranial Thrombosis physiopathology
Published
2010

13. Progressive multifocal leukoencephalopathy in a patient with hepatosplenic T cell lymphoma.

Author

González de la Aleja J, Giménez-Mesa E, Posada IJ, Gonzalo-Martínez JF, Bustelo R, and Escudero L

Subjects
Antineoplastic Combined Chemotherapy Protocols therapeutic use, Brain pathology, Diagnosis, Differential, Humans, JC Virus isolation & purification, Leukoencephalopathy, Progressive Multifocal pathology, Liver Neoplasms diagnosis, Liver Neoplasms pathology, Lymphoma, T-Cell pathology, Male, Middle Aged, Opportunistic Infections pathology, Polymerase Chain Reaction, Splenic Neoplasms diagnosis, Splenic Neoplasms pathology, Antineoplastic Combined Chemotherapy Protocols adverse effects, Leukoencephalopathy, Progressive Multifocal diagnosis, Liver Neoplasms drug therapy, Lymphoma, T-Cell drug therapy, Opportunistic Infections diagnosis, Splenic Neoplasms drug therapy
Published
2006
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