An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Aurélien Trimouille, Émilie Obre, Guillaume Banneau, Alexandra Durr, Giovanni Stevanin, Fabienne Clot, Perrine Pennamen, Jean-Thomas Perez, Clémence Bailly-Scappaticci, Marie Rouanet, Claire Delleci, Guilhem Sole, Stéphane Mathis, Cyril Goizet
Clinical Neurology and Neurosurgery. 2018-03-01; 166: 1-3
DOI: 10.1016/j.clineuro.2018.01.013

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1. Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013.
Epub 2018 Jan 30.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Trimouille A(1), Obre É(2), Banneau G(3), Durr A(4), Stevanin G(5), Clot F(3),
Pennamen P(6), Perez JT(7), Bailly-Scappaticci C(7), Rouanet M(8), Delleci C(9),
Sole G(10), Mathis S(10), Goizet C(6).

Author information:
(1)CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France.
Electronic address: .
(2)Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France; CELLOMET (ADERA/Univ.
Bordeaux), Bordeaux, France.
(3)APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris,
France.
(4)APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris,
France; ICM – Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS
UMR 7225, Sorbonne Universités – UPMC University Paris VI UMR_S1127 Paris,
France.
(5)APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris,
France; ICM – Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS
UMR 7225, Sorbonne Universités – UPMC University Paris VI UMR_S1127 Paris,
France; EPHE, PSL Research University, Paris, France.
(6)CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ.
Bordeaux, INSERM 1211, F-33000 Bordeaux, France.
(7)CHU Bordeaux, Service de Radiologie et d’Imagerie diagnostique et
interventionnelle de l’adulte, F-33000 Bordeaux, France.
(8)CHU Bordeaux, Service d’Explorations fonctionnelles du système nerveux,
F-33000 Bordeaux, France.
(9)CHU Bordeaux, Service de Médecine physique et de réadaptation, F-33000
Bordeaux, France.
(10)CHU Bordeaux, Service de Neurologie, F-33000 Bordeaux, France.

DOI: 10.1016/j.clineuro.2018.01.013
PMID: 29353221 [Indexed for MEDLINE]

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