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Davoine, Claire-Sophie
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1

SCA27B/FGF14 : une ataxie peut en cacher une autre:

Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David...
Revue Neurologique.  180 (2024)  - p. S69 , 2024
Link: https://doi.org/10.1016/..
 
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2

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/..
 
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3

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/..
 
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4

Correction: Clinical, neuropathological, and genetic charac..:

Roux, Thomas ; Barbier, Mathieu ; Papin, Mélanie...
Genetics in Medicine.  23 (2021)  10 - p. 2021 , 2021
Link: https://doi.org/10.1038/..
 
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5

Clinical, neuropathological, and genetic characterization o..:

Roux, Thomas ; Barbier, Mathieu ; Papin, Mélanie...
Genetics in Medicine.  22 (2020)  11 - p. 1851-1862 , 2020
Link: https://doi.org/10.1038/..
 
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6

Loss of paraplegin drives spasticity rather than ataxia in ..:

Coarelli, Giulia ; Schule, Rebecca ; van de Warrenburg, Bart P.C....
Neurology.  92 (2019)  23 - p. , 2019
Link: https://doi.org/10.1212/..
 
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7

Mutations in GFPT1-related congenital myasthenic syndromes ..:

Bauché, Stéphanie ; Vellieux, Geoffroy ; Sternberg, Damien...
Journal of Neurology.  264 (2017)  8 - p. 1791-1803 , 2017
Link: https://doi.org/10.1007/..
 
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8

A panel study on patients with dominant cerebellar ataxia h..:

Coutelier, Marie ; Coarelli, Giulia ; Monin, Marie-Lorraine...
Brain.  140 (2017)  6 - p. 1579-1594 , 2017
Link: https://doi.org/10.1093/..
 
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9

Corrigendum to 'Peripheral nerve hyperexcitability with pre..:

Bauché, Stéphanie ; Boerio, Delphine ; Davoine, Claire-Sophie...
Neuromuscular Disorders.  24 (2014)  4 - p. 371 , 2014
Link: https://doi.org/10.1016/..
 
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10

Peripheral nerve hyperexcitability with preterminal nerve a..:

Bauché, Stéphanie ; Boerio, Delphine ; Davoine, Claire-Sophie...
Neuromuscular Disorders.  23 (2013)  12 - p. 998-1009 , 2013
Link: https://doi.org/10.1016/..
 
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11

Evidence of a dosage effect and a physiological endplate ac..:

Stum, Morgane ; Girard, Emmanuelle ; Bangratz, Marie...
Human Molecular Genetics.  17 (2008)  20 - p. 3166-3179 , 2008
Link: https://doi.org/10.1093/..
 
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12

Spectrum of SPG4 mutations in autosomal dominant spastic pa..:

Fonknechten, Nùria ; Mavel, Delphine ; Byrne, Paula...
Human Molecular Genetics.  14 (2005)  3 - p. 461-461 , 2005
Link: https://doi.org/10.1093/..
 
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13

Perlecan, the major proteoglycan of basement membranes, is ..:

Nicole, Sophie ; Davoine, Claire-Sophie ; Topaloglu, Haluk...
Nature Genetics.  26 (2000)  4 - p. 480-483 , 2000
Link: https://doi.org/10.1038/..
 
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14

Spastin, a new AAA protein, is altered in the most frequent..:

Hazan, Jamilé ; Fonknechten, Nùria ; Mavel, Delphine...
Nature Genetics.  23 (1999)  3 - p. 296-303 , 1999
Link: https://doi.org/10.1038/..
 
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15

A Fine Integrated Map of the SPG4 Locus Excludes an Expande..:

Hazan, Jamilé ; Davoine, Claire-Sophie ; Mavel, Delphine...
Genomics.  60 (1999)  3 - p. 309-319 , 1999
Link: https://doi.org/10.1006/..
 
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