<i>FBXO7</i> mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

Alessio Di Fonzo, Marieke C. J. Dekker, P. Montagna, +14

Neurology

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan

Alessio Di Fonzo, Yah‐Huei Wu‐Chou, Chin-Song Lu, +10

Neurogenetics

Neurodegenerative DiseasesMendelian DisorderDisease RiskGenetic DisorderGenetics +10

The G6055A (G2019S) mutation in <i>LRRK2</i> is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor

Stefano Goldwurm, Alessio Di Fonzo, Erik Simons, +26

Journal of Medical Genetics

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska, +121

The Lancet Neurology

Neurodegenerative DiseasesGenetic DisorderGeneticsGenetic EpidemiologySequencing Study +7

LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample

Stefano Goldwurm, Michela Zini, Alessio Di Fonzo, +19

Parkinsonism & Related Disorders

NeuropsychologyMendelian DisorderPsychiatryCorticobasal DegenerationNeurological Disorder +10

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

Marialuisa Quadri, Giovanni Cossu, Valeria Saddi, +6

Neurogenetics

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population

Chin-Song Lu, Yah‐Huei Wu‐Chou, Marina van Doeselaar, +9

Neurogenetics

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

Ekaterina Yonova‐Doing, Masharip Atadzhanov, Marialuisa Quadri, +7

Parkinsonism & Related Disorders

Parkinson DiseasePathologyNeurologyNeuropathologyMedicine +1

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus

Reinhard Oldenburg, M. F. van Dooren, Bianca de Graaf, +6

Human Reproduction

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

Marjolein Wentink, Annechien J.A. Lambeck, Menno C. van Zelm, +5

Clinical Immunology