All papers authored by Danique Beijer
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Danique Beijer ,
Museer A. Lone ,
Elif Bayraktar,
Piraye Oflazer,
Rotem Orbach,
Sandra Donkervoort,
A. Reghan Foley,
Aubrey Rose,
Michael Lyons,
Raymond J. Louie,
Kenneth Gable,
Teresa Dunn,
Sitong Chen,
Matt C. Danzi
and 5 other authors
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Katja Eggermann,
Christopher J. Record ,
Maike F. Dohrn ,
Petra Laššuthová,
Florian Kraft ,
Matthias Begemann,
Daniela Dey,
Thomas Eggermann ,
Danique Beijer ,
Jana Šoukalová,
Matilde Laura,
Alexander M. Rossor,
Radim Mazanec,
Jonas Van Lent
and 67 other authors
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Maike F. Dohrn ,
Sarah Fazal,
Danique Beijer ,
Adriana P. Rebelo ,
Vivian Cintra,
Stephan Züchner
Deep structured learning for variant prioritization in Mendelian diseases
Download from doi.org
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Matt C. Danzi,
Carlo Wilke ,
Mathilde Renaud,
Sarah Fazal,
Marie-Josée Dicaire,
Carolin K. Scriba,
Catherine Ashton,
Christopher Yanick,
Danique Beijer ,
Adriana Rebelo,
Clarissa Rocca,
Zane Jaunmuktane,
Joshua A. Sonnen,
Roxanne Larivière
and 37 other authors
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
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Ariel Ruiz,
Maike F. Dohrn,
Melanie Wayand,
Amjad Farooq,
Matt C. Danzi,
Danique Beijer ,
Brooke Aaron,
Jana Vandrovcova,
Henry Houlden,
Leslie Matalonga,
Lisa Abreu,
Guy Rouleau,
Mehrdad A. Estiar,
Liedewei Van de Vondel
and 4 other authors
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
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Maike F. Dohrn,
Jonathan De Winter,
Sarah Fazal,
Andrea Cortese ,
Tanya Stojkovic,
Gorka Fernández‐Eulate ,
Gauthier Remiche,
Mattia Gentile ,
Rudy Van Coster,
Claudia Dufke,
Matthis Synofzik ,
Peter De Jonghe,
Stephan Züchner,
Jonathan Baets
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Download from onlinelibrary.wiley.com
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Thomas Agnew,
Johannes Gregor Matthias Rack ,
Evgeniia Prokhorova ,
Tine Deconinck,
Berten Ceulemans,
Stojan Peric,
Vedrana Milic Rasic,
Peter De Jonghe,
Ivan Ahel ,
Jonathan Baets
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
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Hong Joo Kim ,
Lin Guo,
Kevin O’Donovan,
Inès Mademan,
Tine Deconinck,
Kristof Van Schil,
Charlotte M. Fare ,
Lauren E. Drake,
Alice F. Ford,
Andrzej Kochański,
Dagmara Kabzińska ,
Nicolas Dubuisson ,
Peter Van den Bergh,
Nicol C. Voermans
and 12 other authors
Download from doi.org
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Thomas Agnew,
Anne R. Wondisford,
Michael Tellier ,
Nicole Kaminski ,
Danique Beijer ,
James Holder ,
Josephine Groslambert ,
Marcin J. Suskiewicz ,
Kang Zhu,
Julia M. Reber,
Sarah C. Krassnig ,
Luca Palazzo ,
Shona Murphy ,
Michael L. Nielsen
and 5 other authors
Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease
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Kim Hj,
L. Guo,
K. O’Donovan,
I. Mademan,
T. Deconinck,
K. Van Schil,
Fare Cm,
Drake Le,
Ford Af,
A. Kochański,
D. Kabzińska,
N. Dubuisson,
P. Van den Bergh,
Voermans Nc
and 11 other authors
Defining the Diversity of Hnrnpa1 Mutations in Clinical Phenotype and Pathomechanism
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Jonathan Baets
The expanding genetic landscape of hereditary motor neuropathies
Download from academic.oup.com
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Karlla W. Brigatti,
Claudia Gonzaga-Jauregui,
Nico Fuhrmann,
Irmgard Hölker,
Maximilian P. Thelen,
Sebastian Zetzsche,
Roman Rombo,
Erik G. Puffenberger,
Peter De Jonghe,
Tine Deconinck,
Stephan Zuchner
and 6 other authors
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Angela Sisto,
Jonas Van Lent,
Jonathan Baets,
Vincent Timmerman
Defects in Axonal Transport in Inherited Neuropathies
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