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Marelli, Cecilia
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1

Factors Influencing Health-Related Quality of Life of Patie..:

Weber, Niklas ; Buchholz, Maresa ; Rädke, Anika...
The Cerebellum.  , 2024
Link: https://doi.org/10.1007/..
 
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2

De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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3

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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CAG repeat mosaicism is gene specific in spinocerebellar at..:

Kacher, Radhia ; Lejeune, François-Xavier ; David, Isabelle...
The American Journal of Human Genetics.  111 (2024)  5 - p. 913-926 , 2024
Link: https://doi.org/10.1016/..
 
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5

SCAview: an Intuitive Visual Approach to the Integrative An..:

Uebachs, Mischa ; Wegner, Philipp ; Schaaf, Sebastian...
The Cerebellum.  23 (2023)  3 - p. 887-895 , 2023
Link: https://doi.org/10.1007/..
 
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6

Infantile‐onset parkinsonism, dyskinesia, and developmental..:

Baide‐Mairena, Heidy ; Coget, Arthur ; Leboucq, Nicolas...
Annals of Clinical and Translational Neurology.  10 (2023)  10 - p. 1937-1943 , 2023
Link: https://doi.org/10.1002/..
 
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7

Health-Related Quality of Life in Patients with Spinocerebe..:

Buchholz, Maresa ; Weber, Niklas ; Rädke, Anika...
The Cerebellum.  23 (2023)  3 - p. 1020-1030 , 2023
Link: https://doi.org/10.1007/..
 
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8

Very long‐term outcomes in 23 patients with cblA type methy..:

Marelli, Cecilia ; Fouilhoux, Alain ; Benoist, Jean‐Francois...
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 937-951 , 2022
Link: https://doi.org/10.1002/..
 
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9

RFC1 nonsense and frameshift variants cause CANVAS: clues f..:

Benkirane, Mehdi ; Da Cunha, Dylan ; Marelli, Cecilia...
Brain.  145 (2022)  11 - p. 3770-3775 , 2022
Link: https://doi.org/10.1093/..
 
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10

Expanding the clinical spectrum of STIP1 homology and U-box..:

Ravel, Jean-Marie ; Benkirane, Mehdi ; Calmels, Nadège...
Journal of Neurology.  268 (2021)  5 - p. 1927-1937 , 2021
Link: https://doi.org/10.1007/..
 
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11

Biallelic RFC1-expansion in a French multicentric sporadic ..:

Montaut, Solveig ; Diedhiou, Nadège ; Fahrer, Pauline...
Journal of Neurology.  , 2021
Link: https://doi.org/10.1007/..
 
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12

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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13

Evaluation of CSF1R‐related adult onset leukoencephalopathy..:

Ayrignac, Xavier ; Carra‐Dallière, Clarisse ; Codjia, Pekes...
European Journal of Neurology.  29 (2021)  1 - p. 329-334 , 2021
Link: https://doi.org/10.1111/..
 
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14

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
Genetics in Medicine.  23 (2021)  11 - p. 2160-2170 , 2021
Link: https://doi.org/10.1038/..
 
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15

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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