Mutation in the<i>SYNJ1</i>Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

Marialuisa Quadri, Mingyan Fang, Marina Picillo, +13

Human Mutation

Neurodegenerative DiseasesEarly-onset ParkinsonismMendelian DisorderGenetic DisorderExome Sequencing +13

<i>D</i><scp><i>NAJC</i></scp><i>6</i><scp>M</scp>utations <scp>A</scp>ssociated <scp>W</scp>ith <scp>E</scp>arly‐<scp>O</scp>nset <scp>P</scp>arkinson's <scp>D</scp>isease

Simone Olgiati, Marialuisa Quadri, Mingyan Fang, +8

Annals of Neurology

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

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

Simone Olgiati, Anna De Rosa, Marialuisa Quadri, +8

Neurogenetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyGenetic Mechanism +5

Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of <i>ECHS1</i> deficiency

Simone Olgiati, Matěj Škorvánek, Marialuisa Quadri, +24

Movement Disorders

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

Femke M.S. de Vrij, Christian G. Bouwkamp, Nilhan Gunhanlar, +40

Molecular Psychiatry

<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu, +31

Annals of Neurology

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

Simone Olgiati, Astrid Thomas, Marialuisa Quadri, +7

Parkinsonism & Related Disorders

Alpha-synuclein Gene TriplicationEarly-onset ParkinsonismMendelian DisorderGenetic DisorderGenetics +9

Manganese transport disorder: Novel <i>SLC30A10</i> mutations and early phenotypes

Marialuisa Quadri, Mahesh Kamate, Suvasini Sharma, +12

Movement Disorders

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients

W.M.A. Verhoeven, J.I.M. Egger, David A. Koolen, +5

Parkinsonism & Related Disorders

Neurodegenerative DiseasesMolecular NeurosciencePsychiatryMedicineAdult Patients +11