Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex-Reference-Cited by-同舟云学术

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

Published:2018-11-23 Issue:12 Volume:141 Page:3331-3342
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Parodi Livia¹,Fenu Silvia¹,Barbier Mathieu¹,Banneau Guillaume¹,Duyckaerts Charles¹²,Tezenas du Montcel Sophie³⁴,Monin Marie-Lorraine¹,Ait Said Samia¹,Guegan Justine¹,Tallaksen Chantal M E¹⁵⁶,Sablonniere Bertrand⁷⁸,Brice Alexis¹,Stevanin Giovanni¹⁹,Depienne Christel¹¹⁰,Durr Alexandra¹,Abada Myriem,Anheim Mathieu,Bonneau Dominique,Charles Perrine,Clavelou Pierre,Coarelli Giulia,Coutinho Paula,Debs Rabab,Elleuch Nizard,Ewenczyk Claire,Feki Imed,Ferrer Xavier,Fontaine Bertrand,Goizet Cyril,Guyant-Marechal Lucie,Hannequin Didier,Heide Solveig,Kassar Abdoul,Labauge Pierre,Lagueny Alain,Le Ber Isabelle,Lenglet Thomas,Maldergem Lionel,Marelli Cecilia,Nguyen Karine,Rodriguez Diana,Stojkovic Tanya,Tataru Alina,Tchikviladze Maya,Tranchant Christine,Vandenberghe Nadia,

Affiliation:

1. Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France

2. Raymond Escourolle Department of Neuropathology, Pitié-Salpêtrière University Hospital, Paris, France

3. Assistance Publique-Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière University Hospital, Biostatistics and Medical Informatics Unit and Clinical Research Unit, Paris, France

4. Sorbonne Universités, UMR S1136, Institut Pierre Louis d’Epidémiologie et de Santé Publique, Paris, France

5. Department of Neurology, Oslo University Hospital, Oslo, Norway

6. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway

7. Lille University, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, Lille, France

8. CHU Lille, Institut de Biochimie et Biologie Moléculaire, Centre de Biologie Pathologie et Génétique, Lille, France

9. Ecole Pratique des Hautes Etudes (EPHE), Paris Sciences et Lettres (PSL) Research Univeristy, Neurogenetics Group, Paris, France

10. Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

Funder

VERUM Foundation

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/141/12/3331/26826252/awy285.pdf

Reference56 articles.

1. An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome;Allison;J Cell Biol,2013

2. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia;Alvarez;BMC Neurol,2010

3. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia;Beetz;Neurology,2006

4. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations;de Bot;J Neurol Neurosurg Psychiatry,2010

5. Hereditary spastic paraplegia caused by mutations in the SPG4 gene;Bürger;Eur J Hum Genet,2000

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