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Lamantea, Eleonora
142  results:
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1

A novel MT-ATP6 variant associated with complicated ataxia ..:

Sala, Daniele ; Marchet, Silvia ; Nanetti, Lorenzo...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

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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3

Evaluation of Mitochondrial Dysfunction and Idebenone Respo..:

Baglivo, Mirko ; Nasca, Alessia ; Lamantea, Eleonora...
International Journal of Molecular Sciences.  24 (2023)  16 - p. 12580 , 2023
Link: https://doi.org/10.3390/..
 
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4

Expanding the spectrum of neonatal‐onset AIFM1‐associated d..:

Zambon, Alberto A. ; Ghezzi, Daniele ; Baldoli, Cristina...
Annals of Clinical and Translational Neurology.  10 (2023)  10 - p. 1844-1853 , 2023
Link: https://doi.org/10.1002/..
 
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5

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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6

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine.  25 (2023)  11 - p. 100938 , 2023
Link: https://doi.org/10.1016/..
 
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7

A new family with a case of severe early-onset muscle fatig..:

Ghirigato, Elena ; Terenzi, Francesca ; Baglivo, Mirko...
Neuromuscular Disorders.  33 (2023)  12 - p. 972-977 , 2023
Link: https://doi.org/10.1016/..
 
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8

Nanopore long-read next-generation sequencing for detection..:

Frascarelli, Chiara ; Zanetti, Nadia ; Nasca, Alessia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

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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10

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two It..:

Colucci, Fabiana ; Neri, Marcella ; Fortunato, Fernanda...
The Cerebellum.  22 (2022)  6 - p. 1313-1319 , 2022
Link: https://doi.org/10.1007/..
 
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11

Correction to: Kearns‑Sayre syndrome: expanding spectrum of..:

Moscatelli, Marco ; Ardissone, Anna ; Lamantea, Eleonora...
Neurological Sciences.  43 (2022)  11 - p. 6607-6607 , 2022
Link: https://doi.org/10.1007/..
 
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12

Clinical, imaging, biochemical and molecular features in Le..:

Ardissone, Anna ; Bruno, Claudio ; Diodato, Daria...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy ..:

Ciaccio, Claudia ; Pantaleoni, Chiara ; Taroni, Franco...
Applied Sciences.  11 (2021)  5 - p. 2333 , 2021
Link: https://doi.org/10.3390/..
 
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14

Myopathic mitochondrial DNA depletion syndrome associated w..:

Invernizzi, Federica ; Legati, Andrea ; Nasca, Alessia...
Brain.  144 (2021)  9 - p. e74-e74 , 2021
Link: https://doi.org/10.1093/..
 
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15

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDN..:

Peverelli, Lorenzo ; Catania, Alessia ; Marchet, Silvia...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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