CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

(2022) Tiffany Chern et al.   Nature Communications

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

(2022) Lara M. Lange et al.   MOVEMENT DISORDERS

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

(2021) Jiaxi Yu et al.   BRAIN

Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan

(2021) Rino Inada et al.   JOURNAL OF NEUROLOGY

Ronin overexpression induces cerebellar degeneration in a mouse model of ataxia

(2021) Thomas P. Zwaka et al.   Disease Models & Mechanisms

Toxicity of pathogenic ataxin-2 in Drosophila shows dependence on a pure CAG repeat sequence

(2021) Leeanne McGurk et al.   HUMAN MOLECULAR GENETICS

Between Interactions and Aggregates: The PolyQ Balance

(2021) Pablo Mier et al.   Genome Biology and Evolution

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

(2020) Jianwen Deng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinocerebellar ataxia type 48: last but not least

(2020) Giovanna De Michele et al.   NEUROLOGICAL SCIENCES

Deciphering the natural history of SCA7 in children

(2020) M. G. Bah et al.   EUROPEAN JOURNAL OF NEUROLOGY

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

(2019) Ronald A.M. Buijsen et al.   Neurotherapeutics

Updated frequency analysis of spinocerebellar ataxia in China

(2018) Zhao Chen et al.   BRAIN

Glutamine Codon Usage and polyQ Evolution in Primates Depend on the Q Stretch Length

(2018) Pablo Mier et al.   Genome Biology and Evolution

Polyglutamine expansion diseases: More than simple repeats

(2018) Alexandra Silva et al.   JOURNAL OF STRUCTURAL BIOLOGY

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

(2018) Clémence Fournier et al.   Acta Neuropathologica Communications

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

Genetic modifiers of age-at-onset in polyglutamine diseases

(2018) Zhao Chen et al.   AGEING RESEARCH REVIEWS

Spinocerebellar ataxia: an update

(2018) Roisin Sullivan et al.   JOURNAL OF NEUROLOGY

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

(2017) Anita M. Quintana et al.   HUMAN MOLECULAR GENETICS

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

(2017) Henry L. Paulson et al.   NATURE REVIEWS NEUROSCIENCE

The preclinical stage of spinocerebellar ataxias

(2015) Roderick P.P.W.M. Maas et al.   NEUROLOGY

Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest

(2014) Rong-Hua Yin et al.   CELL BIOLOGY INTERNATIONAL

Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics

(2014) J.D. Schulman et al.   CLINICAL GENETICS

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Host Cell Factor-1 Recruitment to E2F-Bound and Cell-Cycle-Control Genes Is Mediated by THAP11 and ZNF143

(2014) J. Brandon Parker et al.   Cell Reports

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

(2011) A. R. Paciorkowski et al.   NEUROLOGY

Are Polyglutamine Diseases Expanding?

(2011) Harry T. Orr   NEURON