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Gotta, Fabio
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1

Early Onset Inherited Peripheral Neuropathies: The Experien..:

Geroldi, Alessandro ; Ponti, Clarissa ; Mammi, Alessia...
Pediatric Neurology.  154 (2024)  - p. 4-8 , 2024
Link: https://doi.org/10.1016/..
 
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2

Distribution of the C9orf72 hexanucleotide repeat expansion..:

Giardina, Emiliano ; Mandich, Paola ; Ghidoni, Roberta...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

The neurological core features of the infantile‐onset multi..:

Mammi, Alessia ; Geroldi, Alessandro ; Patrone, Serena...
Journal of the Peripheral Nervous System.  29 (2024)  2 - p. 279-285 , 2024
Link: https://doi.org/10.1111/..
 
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4

A novel de novo variant in POLR3B gene associated with a pr..:

Geroldi, Alessandro ; Tozza, Stefano ; Fiorillo, Chiara...
Journal of the Peripheral Nervous System.  28 (2023)  4 - p. 620-628 , 2023
Link: https://doi.org/10.1111/..
 
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5

Case report: Episodic ataxia without ataxia?:

Gaudio, Andrea ; Gotta, Fabio ; Ponti, Clarissa...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retros..:

Gemelli, Chiara ; Geroldi, Alessandro ; Massucco, Sara...
Life.  12 (2022)  3 - p. 402 , 2022
Link: https://doi.org/10.3390/..
 
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7

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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8

A misleading presentation of Mohr–Tranebjaerg syndrome: Wha..:

Geroldi, Alessandro ; Trevisan, Lucia ; Gaudio, Andrea...
Parkinsonism & Related Disorders.  102 (2022)  - p. 54-56 , 2022
Link: https://doi.org/10.1016/..
 
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9

A novel mutation in COL3A1 associates to vascular Ehlers–Da..:

Ruscitti, Federica ; Trevisan, Lucia ; Rosti, Giulia...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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10

A novel mutation of Twinkle in Perrault syndrome: A not rar..:

Gotta, Fabio ; Lamp, Merit ; Geroldi, Alessandro...
Annals of Human Genetics.  84 (2020)  5 - p. 417-422 , 2020
Link: https://doi.org/10.1111/..
 
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11

Autosomal-dominant transthyretin (TTR)-related amyloidosis ..:

Grandis, Marina ; Geroldi, Alessandro ; Gulli, Rossella...
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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12

Twenty years of molecular analyses in amyotrophic lateral s..:

Lamp, Merit ; Origone, Paola ; Geroldi, Alessandro...
Neurobiology of Aging.  66 (2018)  - p. 179.e5-179.e16 , 2018
Link: https://doi.org/10.1016/..
 
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13

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA r..:

Origone, Paola ; Gotta, Fabio ; Lamp, Merit...
Cerebellum & Ataxias.  5 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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14

Two novel cases of compound heterozygous mutations in mitof..:

Geroldi, Alessandro ; Lastella, Patrizia ; Patruno, Margherita...
Neuromuscular Disorders.  27 (2017)  4 - p. 377-381 , 2017
Link: https://doi.org/10.1016/..
 
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15

1993-2014: two decades of predictive testing for Huntington..:

Mandich, Paola ; Lamp, Merit ; Gotta, Fabio...
Molecular Genetics & Genomic Medicine.  5 (2017)  5 - p. 473-480 , 2017
Link: https://doi.org/10.1002/..
 
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