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Coutelier, Marie
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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/..
 
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2

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1098-1109 , 2023
Link: https://doi.org/10.1016/..
 
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3

K27M in canonical and noncanonical H3 variants occurs in di..:

Jessa, Selin ; Mohammadnia, Abdulshakour ; Harutyunyan, Ashot S....
Nature Genetics.  54 (2022)  12 - p. 1865-1880 , 2022
Link: https://doi.org/10.1038/..
 
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4

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:

Barbier, Mathieu ; Bahlo, Melanie ; Pennisi, Alessandra...
Annals of Neurology.  92 (2022)  1 - p. 122-137 , 2022
Link: https://doi.org/10.1002/..
 
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5

Combining callers improves the detection of copy number var..:

Coutelier, Marie ; Holtgrewe, Manuel ; Jäger, Marten...
European Journal of Human Genetics.  30 (2021)  2 - p. 178-186 , 2021
Link: https://doi.org/10.1038/..
 
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6

Genome sequencing in families with congenital limb malforma..:

Elsner, Jonas ; Mensah, Martin A. ; Holtgrewe, Manuel...
Human Genetics.  140 (2021)  8 - p. 1229-1239 , 2021
Link: https://doi.org/10.1007/..
 
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7

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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8

Increasing involvement of CAPN1 variants in spastic ataxias..:

Méreaux, Jean-Loup ; Firanescu, Cristina ; Coarelli, Giulia...
neurogenetics.  22 (2021)  1 - p. 71-79 , 2021
Link: https://doi.org/10.1007/..
 
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9

NPTX1 mutations trigger endoplasmic reticulum stress and ca..:

Coutelier, Marie ; Jacoupy, Maxime ; Janer, Alexandre...
Brain.  145 (2021)  4 - p. 1519-1534 , 2021
Link: https://doi.org/10.1093/..
 
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10

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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11

Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFR..:

Chen, Carol C.L. ; Deshmukh, Shriya ; Jessa, Selin...
Cell.  183 (2020)  6 - p. 1617-1633.e22 , 2020
Link: https://doi.org/10.1016/..
 
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12

Differential expression of tissue-restricted antigens among..:

Lebel, Marie-Ève ; Coutelier, Marie ; Galipeau, Maria...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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13

PEDIA: prioritization of exome data by image analysis:

Hsieh, Tzung-Chien ; Mensah, Martin A. ; Pantel, Jean T....
Genetics in Medicine.  21 (2019)  12 - p. 2807-2814 , 2019
Link: https://doi.org/10.1038/..
 
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14

Stalled developmental programs at the root of pediatric bra..:

Jessa, Selin ; Blanchet-Cohen, Alexis ; Krug, Brian...
Nature Genetics.  51 (2019)  12 - p. 1702-1713 , 2019
Link: https://doi.org/10.1038/..
 
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15

Reply: Updated frequency analysis of spinocerebellar ataxia..:

Coutelier, Marie ; Brice, Alexis ; Stevanin, Giovanni.
Brain.  141 (2018)  4 - p. e23-e23 , 2018
Link: https://doi.org/10.1093/..
 
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