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Research article

First published 2017

Female Sexual Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington’s Disease

Matej Kolenc, Jan Kobal, Simon Podnar

Journal of Huntington's Disease

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Research article

First published 2018

Anorectal Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington’s Disease

Jan Kobal, Kolenc Matej, Matic Koželj [...]

Journal of Huntington's Disease

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Research article

First published 2017-12-19

11 C-CFT-PET in Presymptomatic FTDP-17: A Potential Biomarker Predicting Onset

Liyong Wu, Jia Liu, Xueyan Feng [...]

Journal of Alzheimer’s Disease

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Research article

First published 2022-03-08

An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers

Enrico Premi, Tommaso Costa, Stefano Gazzina [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2024-10

Sensitivity of the Boston criteria version 2.0 in Dutch-type hereditary cerebral amyloid angiopathy

RGJ van der Zwet, EA Koemans, S Voigt [...]

International Journal of Stroke

Free access

Research article

First published 2016

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy

B.M. van der Sluijs, V. Raz, M. Lammens [...]

Journal of Neuromuscular Diseases

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Research article

First published 2008-03

Different Intrafamilial Clinical Presentation of FMF Mutation Carriers

Georgios Chalevelakis, Ioannis Apostolakis, Xeni Koliou [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-8-22

Serum Progranulin Levels in Patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease: Detection of GRN Mutations in a Spanish Cohort

Anna Antonell, Silvia Gil, Raquel Sánchez-Valle [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2024-11

Microstructural white matter damage on MRI is associated with disease severity in Dutch-type cerebral amyloid angiopathy

Ingeborg Rasing, Naomi Vlegels, Manon R Schipper [...]

Journal of Cerebral Blood Flow & Metabolism

Free access

Review article

First published 2013-5

Role of genetic testing in the management of patients with inherited porphyria and their families

S D Whatley, M N Badminton

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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