4.6 Article

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Related references

Note: Only part of the references are listed.
Article Medicine, General & Internal

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

Thorlakur Jonsson et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

TREM2 Variants in Alzheimer's Disease

Rita Guerreiro et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Clinical Neurology

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

Johannes Brettschneider et al.

ACTA NEUROPATHOLOGICA (2012)

Article Genetics & Heredity

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Physiology

Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

Chiara Zuccato et al.

PHYSIOLOGICAL REVIEWS (2010)

Review Biochemistry & Molecular Biology

RNA and Disease

Thomas A. Cooper et al.

Review Clinical Neurology

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

Patricia Lillo et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2009)

Review Biochemistry & Molecular Biology

The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases

Konstanze F. Winklhofer et al.

EMBO JOURNAL (2008)

Article Clinical Neurology

Homozygosity for CCTG mutation in myotonic dystrophy type 2

BGH Schoser et al.

BRAIN (2004)

Article Medicine, General & Internal

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

J Aharon-Peretz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Letter Genetics & Heredity

Molecular and clinical study of two myotonic dystrophy homozygotes

Fahri Akbas et al.

JOURNAL OF MEDICAL GENETICS (2001)