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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins Cover

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Open Access
|Jul 2019

Authors

Enrica Marchionni

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Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome

Aurélie Méneret

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3Department of Neurology, AP-HP, La Pitié-Salpêtrière University Hospital, Paris; Sorbonne Universités, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, CNRS UMR 7225, ICM, Paris

Boris Keren

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Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris

Judith Melki

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Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche-788 and University of Paris 11, Bicêtre Hospital, Paris

Christian Denier

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Department of Neurology, Bicêtre Hospital, AP-HP, Le Kremlin Bicêtre, FR; University of Paris 11, INSERM U788, Bicêtre Hospital, Paris

Alexandra Durr

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Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris; Sorbonne Universités, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, CNRS UMR 7225, ICM, Paris

Emmanuelle Apartis

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Department of Neurophysiology, AP-HP, Saint-Antoine Hospital, Paris

Odile Boespflug-Tanguy

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Department of Neuropediatry and Reference centre for leukodystrophies and rare leukoencephalopathies, Robert-Debré Hospital, AP-HP, Paris

Fanny Mochel

fanny.mochel@upmc.fr

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris; Sorbonne Universités, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, CNRS UMR 7225, ICM, Paris; Sorbonne Universités, Groupe de Recherche Clinique Neurométabolisme, Paris
DOI: https://doi.org/10.5334/tohm.473 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 22, 2019
Accepted on: Jun 24, 2019
Published on: Jul 17, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.