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Biomethane generation in an AnSBBR treating effluent from the biohydrogen production from vinasse: Optimization, metabolic pathways modeling and scale-up estimation

Renewable energy, 2018-02, Vol.116, p.288-298

2018

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Physical exercise affects the epigenetic programming of rat brain and modulates the adaptive response evoked by repeated restraint stress

Behavioural brain research, 2016-01, Vol.296, p.286-289

2016

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Effects of chronic restraint stress on the global DNA methylation profile of rat lung cells: Modulation by physical exercise

Behavioural brain research, 2017-07, Vol.331, p.188-192

2017

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Phenotypic spectrum of MFN2 mutations in the Spanish population

Journal of medical genetics, 2010-04, Vol.47 (4), p.249-256

2010

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Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Neurology, 2011-04, Vol.76 (17), p.1524

2011

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Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

Cephalalgia, 2008-10, Vol.28 (10), p.1039-1047

2008

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Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Parkinsonism & related disorders, 2014-05, Vol.20 (5), p.558-561

2014

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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

American journal of human genetics, 2001-02, Vol.68 (2), p.523-528

2001

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Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis

Acta neurologica Scandinavica, 2005-06, Vol.111 (6), p.391-399

2005

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Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

Neurology, 2002-03, Vol.58 (6), p.983

2002

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Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.974-978

2008

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Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2

Journal of the American Society of Nephrology, 1996-10, Vol.7 (10), p.2142-2151

1996

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Spinocerebellar ataxia type 2 (SCA2) with white matter involvement

Neuroscience letters, 2005-06, Vol.381 (3), p.247-251

2005

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Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Case reports in neurology, 2011-04, Vol.3 (1), p.86-90

2011

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Expanded GAA repeats and clinical variation in Friedreich's ataxia

Acta neurologica Scandinavica, 2004-01, Vol.109 (1), p.75-78

2004

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GAA expansion size and age at onset of Friedreich's ataxia

Neurology, 2003-07, Vol.61 (2), p.274

2003

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A kindred with cerebellar ataxia and thermoanalgesia

Journal of neurology, neurosurgery and psychiatry, 2009-05, Vol.80 (5), p.518-523

2009

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WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Human molecular genetics, 1995-07, Vol.4 (7), p.1127-1135

1995

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Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

Clinical genetics, 2006-12, Vol.70 (6), p.516-523

2006

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Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes

Neuroscience letters, 2003-01, Vol.336 (3), p.143-146

2003

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Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms

Neurology, 1995-01, Vol.45 (1), p.24

1995

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Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

American journal of human genetics, 1996-05, Vol.58 (5), p.963-970

1996

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Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

European journal of human genetics : EJHG, 1997-03, Vol.5 (2), p.83-88

1997

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Genetic Heterogeneity in Cystinuria: The SLC3A1 Gene is Linked to Type I but not to Type III Cystinuria

Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (21), p.9667-9671

1995

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Diagnosis of Charcot-Marie-Tooth disease

BioMed research international, 2009-01, Vol.2009, p.985415

2009

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Biomethane generation in an AnSBBR treating effluent from the biohydrogen production from vinasse: Optimization, metabolic pathways modeling and scale-up estimation

Physical exercise affects the epigenetic programming of rat brain and modulates the adaptive response evoked by repeated restraint stress

Effects of chronic restraint stress on the global DNA methylation profile of rat lung cells: Modulation by physical exercise

Phenotypic spectrum of MFN2 mutations in the Spanish population

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Expanded GAA repeats and clinical variation in Friedreich's ataxia

GAA expansion size and age at onset of Friedreich's ataxia

A kindred with cerebellar ataxia and thermoanalgesia

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

Genetic Heterogeneity in Cystinuria: The SLC3A1 Gene is Linked to Type I but not to Type III Cystinuria

Diagnosis of Charcot-Marie-Tooth disease

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