E-LIB Suche - Ergebnisse für: Guyant-Marechal, Lucie

1

Clinical and genetic keys to cerebellar ataxia due to FGF14..:

Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David...
eBioMedicine. 99 (2024) - p. 104931 , 2024

Link: https://doi.org/10.1016/..

2

Intermediate repeat expansions of TBP and STUB1: Genetic mo..:

Barbier, Mathieu ; Davoine, Claire-Sophie ; Petit, Emilien...
Genetics in Medicine. 25 (2023) 2 - p. 100327 , 2023

Link: https://doi.org/10.1016/..

3

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

Link: https://doi.org/10.1016/..

4

An Atypical Case of Head Tremor and Extensive White Matter ..:

Boutouchent, Nassim ; Bourilhon, Julie ; Sudrié-Arnaud, Bénédicte...
Diagnostics. 11 (2021) 9 - p. 1561 , 2021

Link: https://doi.org/10.3390/..

5

A novel pathogenic variant in DYNC1H1 causes various upper ..:

Viollet, Louis M. ; Swoboda, Kathryn J. ; Mao, Rong...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104063 , 2020

Link: https://doi.org/10.1016/..

6

Clinical, morphological and genetic characterization of Bro..:

Molenaar, Joery P ; Verhoeven, Jamie I ; Rodenburg, Richard J...
Brain. 143 (2020) 2 - p. 452-466 , 2020

Link: https://doi.org/10.1093/..

7

Giant axonal neuropathy: a multicenter retrospective study ..:

Echaniz-Laguna, Andoni ; Cuisset, Jean-Marie ; Guyant-Marechal, Lucie...
neurogenetics. 21 (2019) 1 - p. 29-37 , 2019

Link: https://doi.org/10.1007/..

8

Novel VCP mutations expand the mutational spectrum of front..:

Saracino, Dario ; Clot, Fabienne ; Camuzat, Agnès...
Neurobiology of Aging. 72 (2018) - p. 187.e11-187.e14 , 2018

Link: https://doi.org/10.1016/..

9

Morphological features in juvenile Huntington disease assoc..:

Hedjoudje, Abderrahmane ; Nicolas, Gaël ; Goldenberg, Alice...
Pediatric Radiology. 48 (2018) 10 - p. 1463-1471 , 2018

Link: https://doi.org/10.1007/..

10

Spastic paraplegia due to SPAST mutations is modified by th..:

Parodi, Livia ; Fenu, Silvia ; Barbier, Mathieu...
Brain. 141 (2018) 12 - p. 3331-3342 , 2018

Link: https://doi.org/10.1093/..

11

Tubular aggregate myopathy with features of Stormorken dise..:

Noury, Jean-Baptiste ; Böhm, Johann ; Peche, Georges Arielle...
Neuromuscular Disorders. 27 (2017) 1 - p. 78-82 , 2017

Link: https://doi.org/10.1016/..

12

Clinical and electroencephalographic abnormalities during t..:

Chastan, Nathalie ; Lebas, Axel ; Legoff, Floriane..
Neurophysiologie Clinique/Clinical Neurophysiology. 46 (2016) 4-5 - p. 307-311 , 2016

Link: https://doi.org/10.1016/..

13

HeterozygousHTRA1mutations are associated with autosomal do..:

Verdura, Edgard ; Hervé, Dominique ; Scharrer, Eva...
Brain. 138 (2015) 8 - p. 2347-2358 , 2015

Link: https://doi.org/10.1093/..

14

Étude descriptive d'une cohorte normande de neuropathies an..:

Zarea, Aline ; Bedat-Millet, Anne-Laure ; Guyant-Marechal, Lucie
Revue Neurologique. 171 (2015) - p. A163-A164 , 2015

Link: https://doi.org/10.1016/..

15

Mutation of thePDGFRBgene as a cause of idiopathic basal ga..:

Nicolas, Gaël ; Pottier, Cyril ; Maltête, David...
Neurology. 80 (2013) 2 - p. 181-187 , 2013

Link: https://doi.org/10.1212/..