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Danzi, Matt
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1

A deep intronic FGF14 GAA repeat expansion causes late-onse..:

Pellerin, David ; Danzi, Matt ; Wilke, Carlo...
Journal of the Neurological Sciences.  455 (2023)  - p. 121139 , 2023
Link: https://doi.org/10.1016/..
 
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2

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
European Journal of Neurology.  30 (2022)  2 - p. 511-526 , 2022
Link: https://doi.org/10.1111/..
 
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3

Reversible CD8 T cell–neuron cross-talk causes aging-depend..:

Zhou, Luming ; Kong, Guiping ; Palmisano, Ilaria...
Science.  376 (2022)  6594 - p. , 2022
Link: https://doi.org/10.1126/..
 
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4

Rare mutations in ATL3, SPTLC2 and SCN9A explaining heredit..:

Cintra, Vivian Pedigone ; Dohrn, Maike F. ; Tomaselli, Pedro José...
Journal of the Neurological Sciences.  427 (2021)  - p. 117498 , 2021
Link: https://doi.org/10.1016/..
 
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5

Loss of Function, Loss of Pain? Novel Variants in SCN9A to ..:

Cintra, Vivian Pedigone ; Dohrn, Maike ; Tomaselli, Pedro...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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6

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 d..:

Gonzalez, Michael A. ; Feely, Shawna M. ; Speziani, Fiorella...
Brain.  137 (2014)  11 - p. 2897-2902 , 2014
Link: https://doi.org/10.1093/..
 
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7

The FGF14GAA repeat expansion in Greek patients with late‐o..:

Kartanou, Chrisoula ; Mitrousias, Alexandros ; Pellerin, David...
Clinical Genetics.  105 (2024)  4 - p. 446-452 , 2024
Link: https://doi.org/10.1111/..
 
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8

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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9

GAA-FGF14 disease: defining its frequency, molecular basis,..:

Pellerin, David ; Heindl, Felix ; Wilke, Carlo...
eBioMedicine.  102 (2024)  - p. 105076 , 2024
Link: https://doi.org/10.1016/..
 
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10

Spinocerebellar ataxia 27B: A novel, frequent and potential..:

Pellerin, David ; Danzi, Matt C. ; Renaud, Mathilde...
Clinical and Translational Medicine.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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11

A study concept of expeditious clinical enrollment for gene..:

Xu, Isaac R. L. ; Danzi, Matt C. ; Ruiz, Ariel...
Journal of the Peripheral Nervous System.  29 (2024)  2 - p. 202-212 , 2024
Link: https://doi.org/10.1111/..
 
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12

The genetic landscape and phenotypic spectrum of GAA-FGF14 ..:

Ouyang, Riwei ; Wan, Linlin ; Pellerin, David...
eBioMedicine.  102 (2024)  - p. 105077 , 2024
Link: https://doi.org/10.1016/..
 
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13

Neurological disorders caused by novel non-coding repeat ex..:

Vegezzi, Elisa ; Ishiura, Hiroyuki ; Bragg, D Cristopher...
The Lancet Neurology.  23 (2024)  7 - p. 725-739 , 2024
Link: https://doi.org/10.1016/..
 
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14

Spinocerebellar ataxia 27B: a frequent and slowly progressi..:

Satolli, Sara ; Rossi, Salvatore ; Vegezzi, Elisa...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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15

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 1075-1079 , 2024
Link: https://doi.org/10.1002/..
 
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