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Moroni, Isabella
291  results:
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1

Biallelic USP14 variants cause a syndromic neurodevelopment..:

Ebstein, Frédéric ; Latypova, Xenia ; Sharon Hung, Ka Ying...
Genetics in Medicine.  26 (2024)  6 - p. 101120 , 2024
Link: https://doi.org/10.1016/..
 
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2

Parent‐proxy pediatric CMT quality of life outcome measure:..:

Danti, Federica Rachele ; Pagliano, Emanuela ; Pareyson, Davide...
Journal of the Peripheral Nervous System.  29 (2024)  1 - p. 107-110 , 2024
Link: https://doi.org/10.1111/..
 
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3

Improving paediatric movement disorders care: Insights on r..:

Amato, María Eugenia ; Darling, Alejandra ; Stovickova, Lucie...
European Journal of Paediatric Neurology.  52 (2024)  - p. 10-19 , 2024
Link: https://doi.org/10.1016/..
 
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4

NGS-Based Genetic Analysis in a Cohort of Italian Patients ..:

Invernizzi, Federica ; Izzo, Rossella ; Colangelo, Isabel...
Genes.  14 (2023)  7 - p. 1393 , 2023
Link: https://doi.org/10.3390/..
 
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5

FDXR-associated disease: a challenging differential diagnos..:

Masnada, Silvia ; Previtali, Roberto ; Erba, Paola...
Neurological Sciences.  44 (2023)  9 - p. 3037-3043 , 2023
Link: https://doi.org/10.1007/..
 
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6

Clinical spectrum and frequency of Charcot–Marie–Tooth dise..:

Pisciotta, Chiara ; Bertini, Alessandro ; Tramacere, Irene...
European Journal of Neurology.  30 (2023)  8 - p. 2461-2470 , 2023
Link: https://doi.org/10.1111/..
 
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7

Growing into adulthood with Duchenne muscular dystrophy:

Leonardi, Matilde ; Moroni, Isabella ; Langer, Thorsten...
Journal of the Neurological Sciences.  455 (2023)  - p. 122036 , 2023
Link: https://doi.org/10.1016/..
 
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8

Phenotyping mitochondrial DNA‐related diseases in childhood..:

Ardissone, Anna ; Ferrera, Giulia ; Lamperti, Costanza...
European Journal of Neurology.  30 (2023)  7 - p. 2079-2091 , 2023
Link: https://doi.org/10.1111/..
 
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9

Association of Body Mass Index With Disease Progression in ..:

Donlevy, Gabrielle A. ; Cornett, Kayla M.D. ; Garnett, Sarah P....
Neurology.  101 (2023)  7 - p. , 2023
Link: https://doi.org/10.1212/..
 
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10

Nutritional status of children affected by X‐linked adrenol..:

Moroni, Isabella ; De Amicis, Ramona ; Ardissone, Anna..
Journal of Human Nutrition and Dietetics.  36 (2023)  4 - p. 1316-1326 , 2023
Link: https://doi.org/10.1111/..
 
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11

Kearns-Sayre syndrome: expanding spectrum of a "novel" mito..:

Moscatelli, Marco ; Ardissone, Anna ; Lamantea, Eleonora...
Neurological Sciences.  43 (2022)  3 - p. 2081-2084 , 2022
Link: https://doi.org/10.1007/..
 
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12

Molecular Fingerprint of BMD Patients Lacking a Portion in ..:

Capitanio, Daniele ; Moriggi, Manuela ; Barbacini, Pietro...
International Journal of Molecular Sciences.  23 (2022)  5 - p. 2624 , 2022
Link: https://doi.org/10.3390/..
 
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13

Expanding the clinical-pathological and genetic spectrum of..:

Fusto, Aurora ; Cassandrini, Denise ; Fiorillo, Chiara...
Acta Neuropathologica Communications.  10 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

The SPTLC1 p.S331 mutation bridges sensory neuropathy and m..:

Fiorillo, Chiara ; Capodivento, Giovanna ; Geroldi, Alessandro...
Neuropathology and Applied Neurobiology.  48 (2022)  7 - p. , 2022
Link: https://doi.org/10.1111/..
 
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15

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritanc..:

Grossi, Alice ; Morelli, Federico ; Di Duca, Marco...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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