Spectrin mutations cause spinocerebellar ataxia type 5

Yoshio Ikeda, Katherine A. Dick, Marcy R. Weatherspoon, +13

Nature Genetics

Molecular NeuroscienceMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +4

The aetiology of sporadic adult‐onset ataxia

Michael Abele, Katrin Bürk, Lüdger Schöls, +5

Brain

Rare DiseasesMendelian DisorderNeurological DisorderMedicineGenetic Disorder +12

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3

Katrin Bürk, Christoph Globas, Sylvia Bösch, +4

Journal of Neurology

Neuropsychological FunctioningNeuropsychologyBrain FunctionBrain StructureMedicine +7

Mitotic stability and meiotic variability of the (CAG)_n repeat in the Huntington disease gene

Christine Zühlke, Olaf Rless, Barbara Bockel, +2

Human Molecular Genetics

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

Christine Zühlke, Yorck Hellenbroich, Andreas Dalski, +4

European Journal of Human Genetics

Genetic DisorderMedicineGeneticsMolecular BiologyDegenerative Disease +7

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

Andreas Dalski, Jassemien Atici, Friedmar R. Kreuz, +3

European Journal of Human Genetics

Inherited AtaxiasMendelian DisorderGenetic DisorderMedicineGenetics +7

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

Uta Rundshagen, Christine Zühlke, Sven Opitz, +2

Human Mutation

Oculocutaneous AlbinismSomatic VariantGerman PatientsGenetic DisorderGenetics +11

Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations

Christine Zühlke, Ulrike Thies, I. Braulke, +2

Clinical Genetics

FertilityGeneticsReproductive HealthGenetic EpidemiologyGynecology +17

SCA2 trinucleotide expansion in German SCA patients

Franco Laccone, Suzana Gispert, Lüdger Schöls, +19

Neurogenetics

Sca2 Trinucleotide ExpansionGenetic DisorderGeneticsPathologyMedicine

Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17

Rui Gao, Tohru Matsuura, Mary I. Coolbaugh, +6

European Journal of Human Genetics

Molecular NeuroscienceExpanded Cag/caa RepeatsNeurologyNeuroscienceCentral Nervous System +4