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LRRK2 gene in Parkinson disease: mutation analysis and case control association study

Neurology, 2005-09, Vol.65 (5), p.696-700

2005

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Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

European journal of neurology, 2008-10, Vol.15 (10), p.1065-1070

2008

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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

Neurology, 2008-04, Vol.70 (16 Pt 2), p.1384-1389

2008

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A novel TRPA1 variant is associated with carbamazepine‐responsive cramp‐fasciculation syndrome

Clinical genetics, 2018-01, Vol.93 (1), p.164-168

2018

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Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

Journal of medical genetics, 2009-06, Vol.46 (6), p.375-381

2009

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R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

European journal of neurology, 2009-01, Vol.16 (1), p.101-104

2009

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Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration

Clinical genetics, 2013-10, Vol.84 (4), p.350-355

2013

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Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

Journal of neurology, 2014-12, Vol.261 (12), p.2411-2423

2014

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Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.O1-O1, Article O1

2015

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Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

Clinical genetics, 2013-04, Vol.83 (4), p.392-394

2013

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Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

Neurobiology of aging, 2009-12, Vol.30 (12), p.1986-1991

2009

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P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6

Parkinsonism & related disorders, 2009, Vol.15, p.S44-S44

2009

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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

Human molecular genetics, 2011-01, Vol.20 (2), p.345-353

2011

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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

Neuron (Cambridge, Mass.), 2004-11, Vol.44 (4), p.595-600

2004

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Apolipoprotein E ε4 allele in familial and sporadic Parkinson's disease

Neuroscience letters, 2006-10, Vol.406 (3), p.235-239

2006

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Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

The Lancet (British edition), 2005-01, Vol.365 (9457), p.410-412

2005

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Compound heterozygous PNPLA6 mutations cause Boucher-Neuhaeuser syndrome with late-onset ataxia

Journal of neurology, 2014-12, Vol.261 (12), p.2411-2423

2014

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Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium

Journal of medical genetics, 2006-02, Vol.43 (2), p.e09-e09

2006

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Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Annals of neurology, 2005-03, Vol.57 (3), p.453-456

2005

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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

Annals of neurology, 2005-03, Vol.57 (3), p.365-372

2005

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Glucose transporter 1 gene mutations cause sporadic PED

Aktuelle Neurologie, 2009, Vol.36 (S 02)

2009

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Cerebellum (London, England), 2024-04, Vol.23 (2), p.391-400

2024

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Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)

Journal of behavioral and brain science, 2015, Vol.5 (3), p.101-108

2015

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Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

Neuroscience letters, 2006-10, Vol.406 (3), p.235-239

2006

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Apolipoprotein E ɛ4 allele in familial and sporadic Parkinson's disease

Neuroscience letters, 2006-10, Vol.406 (3), p.235-239

2006

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LRRK2 gene in Parkinson disease: mutation analysis and case control association study

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

A novel TRPA1 variant is associated with carbamazepine‐responsive cramp‐fasciculation syndrome

Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration

Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

Apolipoprotein E ε4 allele in familial and sporadic Parkinson's disease

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhaeuser syndrome with late-onset ataxia

Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

Glucose transporter 1 gene mutations cause sporadic PED

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

Apolipoprotein E ɛ4 allele in familial and sporadic Parkinson's disease

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