Lista de obras -

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

artículo científico publicado en 2009

Acute physical exercise improves shifting in adolescents at school: evidence for a dopaminergic contribution

artículo científico publicado en 2015

Alpha synuclein and crystallin expression in human lens in Parkinson's disease

artículo científico publicado en 2016

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

artículo científico publicado en 2010

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

artículo científico publicado en 2013

Chlamydia pneumoniae infection and Alzheimer's disease: a connection to remember?

artículo científico publicado en 2010

Clinical features and molecular genetics of hereditary peripheral neuropathies

artículo científico publicado en 2002

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

Functional gene variants of the serotonin-synthesizing enzyme tryptophan hydroxylase 2 in migraine.

artículo científico publicado en 2009

Genetic TPH2 variants and the susceptibility for migraine: association of a TPH2 haplotype with migraine without aura ⬇️

artículo científico publicado el 26 de agosto de 2010

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

artículo científico publicado en 2012

Genetics of essential tremor: meta-analysis and review

artículo científico publicado en 2014

Genome-wide association study in essential tremor identifies three new loci

artículo científico publicado en 2016

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

artículo científico publicado en 2004

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

artículo científico publicado en 2007

Hereditary and non-hereditary microangiopathies in the young. An up-date

artículo científico publicado en 2010

Knowledge gaps and research recommendations for essential tremor

artículo científico publicado en 2016

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

artículo científico publicado en 2005

No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease

scientific article published on 06 February 2013

Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder

artículo científico publicado en 2004

Novel genomic techniques open new avenues in the analysis of monogenic disorders ⬇️

artículo científico publicado el 1 de febrero de 2011

Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules

artículo científico publicado en 2013

Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections

artículo científico publicado en 2004

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

scientific journal article

Spontaneous acute dissection of the internal carotid artery: high-resolution magnetic resonance imaging at 3.0 tesla with a dedicated surface coil

artículo científico publicado en 2006

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

artículo científico publicado en 2013

The impact of rare variants in FUS in essential tremor

artículo científico publicado en 2015

Validation of the QUEST for German-speaking countries

artículo científico publicado en 2015

Variation in the PDE4D gene and ischemic stroke risk: a systematic review and meta-analysis on 5200 cases and 6600 controls

artículo científico publicado en 2008

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

artículo científico publicado en 2017

Lista de obras de

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

Acute physical exercise improves shifting in adolescents at school: evidence for a dopaminergic contribution

Alpha synuclein and crystallin expression in human lens in Parkinson's disease

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

Chlamydia pneumoniae infection and Alzheimer's disease: a connection to remember?

Clinical features and molecular genetics of hereditary peripheral neuropathies

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

Functional gene variants of the serotonin-synthesizing enzyme tryptophan hydroxylase 2 in migraine.

Genetic TPH2 variants and the susceptibility for migraine: association of a TPH2 haplotype with migraine without aura ⬇️

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

Genetics of essential tremor: meta-analysis and review

Genome-wide association study in essential tremor identifies three new loci

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Hereditary and non-hereditary microangiopathies in the young. An up-date

Knowledge gaps and research recommendations for essential tremor

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease

Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder

Novel genomic techniques open new avenues in the analysis of monogenic disorders ⬇️

Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules

Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

Spontaneous acute dissection of the internal carotid artery: high-resolution magnetic resonance imaging at 3.0 tesla with a dedicated surface coil

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

The impact of rare variants in FUS in essential tremor

Validation of the QUEST for German-speaking countries

Variation in the PDE4D gene and ischemic stroke risk: a systematic review and meta-analysis on 5200 cases and 6600 controls

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia