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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

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 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

Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis,Presymptomatic and Carrier Testing,and Newborn Screening

Jean Schaller, Hugo Moser, Michael L. Begleiter [...]

Genetic Testing and Molecular Biomarkers

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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

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Research article

First published 2025-5

Early Treatment in Preterm Twins With Spinal Muscular Atrophy

Jacob Bistritzer, Dekel Avital, Inbal Golan-Tripto [...]

Journal of Child Neurology

Open access

Research article

First published 2022-7

Cerebellar hemorrhages in patients with Dutch-type hereditary cerebral amyloid angiopathy

S Voigt, PC de Kruijff, EA Koemans [...]

International Journal of Stroke

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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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