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Sarto, Elisa
66  results:
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1

Normal and pathogenic variation of RFC1 repeat expansions: ..:

Dominik, Natalia ; Magri, Stefania ; Currò, Riccardo...
Brain.  146 (2023)  12 - p. 5060-5069 , 2023
Link: https://doi.org/10.1093/..
 
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2

Digenic inheritance of STUB1 variants and TBP polyglutamine..:

Magri, Stefania ; Nanetti, Lorenzo ; Gellera, Cinzia...
Genetics in Medicine.  24 (2022)  1 - p. 29-40 , 2022
Link: https://doi.org/10.1016/..
 
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3

Beyond canvas: behavioral onset of rfc1-expansion disease i..:

Colucci, Fabiana ; Di Bella, Daniela ; Pisciotta, Chiara...
Neurological Sciences.  43 (2022)  8 - p. 5095-5098 , 2022
Link: https://doi.org/10.1007/..
 
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4

Multifaceted and Age-Dependent Phenotypes Associated With B..:

Nanetti, Lorenzo ; Di Bella, Daniela ; Magri, Stefania...
Frontiers in Neurology.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Spastic paraplegia type 46: novel and recurrent GBA2 gene v..:

Gatti, Marta ; Magri, Stefania ; Di Bella, Daniela...
Neurological Sciences.  42 (2021)  11 - p. 4741-4745 , 2021
Link: https://doi.org/10.1007/..
 
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6

Severe worsening of adult-onset Alexander disease after min..:

Benzoni, Chiara ; Aquino, Domenico ; Di Bella, Daniela...
Journal of Clinical Neuroscience.  75 (2020)  - p. 221-223 , 2020
Link: https://doi.org/10.1016/..
 
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7

Hypomyelinating leukodystrophies in adults: Clinical and ge..:

Di Bella, Daniela ; Magri, Stefania ; Benzoni, Chiara...
European Journal of Neurology.  28 (2020)  3 - p. 934-944 , 2020
Link: https://doi.org/10.1111/..
 
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8

Spasmodic dysphonia as a presenting symptom of spinocerebel..:

Rossi, Jessica ; Cavallieri, Francesco ; Giovannini, Giada...
neurogenetics.  20 (2019)  3 - p. 161-164 , 2019
Link: https://doi.org/10.1007/..
 
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9

From congenital microcephaly to adult onset cerebellar atax..:

Gatti, Marta ; Magri, Stefania ; Nanetti, Lorenzo...
American Journal of Medical Genetics Part A.  179 (2019)  11 - p. 2277-2283 , 2019
Link: https://doi.org/10.1002/..
 
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10

ANO10 mutational screening in recessive ataxia: genetic fin..:

Nanetti, Lorenzo ; Sarto, Elisa ; Castaldo, Anna...
Journal of Neurology.  266 (2018)  2 - p. 378-385 , 2018
Link: https://doi.org/10.1007/..
 
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11

SYNE1 ataxia is a common recessive ataxia with major non-ce..:

Synofzik, Matthis ; Smets, Katrien ; Mallaret, Martial...
Brain.  139 (2016)  5 - p. 1378-1393 , 2016
Link: https://doi.org/10.1093/..
 
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12

Somatosensory Conduction Pathway in Spastic Paraplegia Type..:

Vanotti, Alessandra ; Nanetti, Lorenzo ; Rossi Sebastiano, Davide...
Journal of Clinical Neurology.  10 (2014)  4 - p. 373 , 2014
Link: https://doi.org/10.3988/..
 
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13

Overlapping phenotypes in complex spastic paraplegias SPG11..:

Pensato, Viviana ; Castellotti, Barbara ; Gellera, Cinzia...
Brain.  137 (2014)  7 - p. 1907-1920 , 2014
Link: https://doi.org/10.1093/..
 
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14

Adult-onset autosomal dominant leukodystrophy without early..:

Potic, Ana ; Pavlovic, Aleksandra M. ; Uziel, Graziella...
Journal of Neurology.  260 (2013)  8 - p. 2124-2129 , 2013
Link: https://doi.org/10.1007/..
 
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15

Normal and pathogenic variation of RFC1 repeat expansions: ..:

Dominik, Natalia ; Magri, Stefania ; Currò, Riccardo...
https://discovery.ucl.ac.uk/id/eprint/10173615/1/Reilly_Normal%20and%20pathogenic%20variation%20of%20RFC1%20repeat%20expansions_AAM.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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