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Borgione, Eugenia
53  Ergebnisse:
Personensuche X
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1

Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic S..:

Santa Paola, Sandro ; Di Blasi, Francesco Domenico ; Borgione, Eugenia...
Genes.  15 (2024)  1 - p. 134 , 2024
Link: https://doi.org/10.3390/..
 
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2

Successful Treatment with Patisiran in Amyloid Polyneuropat..:

Di Stefano, Vincenzo ; Guaraldi, Pietro ; Giglia, Francesca...
Brain Sciences.  14 (2024)  6 - p. 519 , 2024
Link: https://doi.org/10.3390/..
 
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3

The Y831C Mutation of the POLG Gene in Dementia:

Borgione, Eugenia ; Lo Giudice, Mariangela ; Santa Paola, Sandro...
Biomedicines.  11 (2023)  4 - p. 1172 , 2023
Link: https://doi.org/10.3390/..
 
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4

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Muta..:

Borgione, Eugenia ; Lo Giudice, Mariangela ; Santa Paola, Sandro...
Life.  13 (2023)  2 - p. 554 , 2023
Link: https://doi.org/10.3390/..
 
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5

Genetic screening for hereditary transthyretin amyloidosis ..:

Di Stefano, Vincenzo ; Lupica, Antonino ; Alonge, Paolo...
European Journal of Neurology.  31 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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6

Mitochondrial DNA involvement in patients with autism spect..:

Scuderi, Carmela ; Santa Paola, Sandro ; Lo Giudice, Mariangela...
Research in Autism Spectrum Disorders.  100 (2023)  - p. 102084 , 2023
Link: https://doi.org/10.1016/..
 
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7

A Transcriptome Analysis of mRNAs and Long Non-Coding RNAs ..:

Salemi, Michele ; Lanza, Giuseppe ; Mogavero, Maria Paola...
International Journal of Molecular Sciences.  23 (2022)  3 - p. 1535 , 2022
Link: https://doi.org/10.3390/..
 
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8

The Genetic Landscape of Dystrophin Mutations in Italy: A N..:

Neri, Marcella ; Rossi, Rachele ; Trabanelli, Cecilia...
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

Biallelic intragenic duplication in ADGRB3 (BAI3) gene asso..:

Scuderi, Carmela ; Saccuzzo, Lucia ; Vinci, Mirella...
European Journal of Human Genetics.  27 (2019)  4 - p. 594-602 , 2019
Link: https://doi.org/10.1038/..
 
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10

Early-onset subcortical ischemic vascular dementia in an ad..:

Lanza, Giuseppe ; Cantone, Mariagiovanna ; Musso, Sabrina...
Journal of Neurology.  265 (2018)  4 - p. 968-969 , 2018
Link: https://doi.org/10.1007/..
 
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11

Is myopathy with rimmed vacuoles a hallmark of juvenile neu..:

Borgione, Eugenia ; Castello, Filippa ; Lo Giudice, Mariangela...
Neurological Sciences.  37 (2015)  5 - p. 805-807 , 2015
Link: https://doi.org/10.1007/..
 
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12

The in cis T251I and P587L POLG1 base changes: Description ..:

Scuderi, Carmela ; Borgione, Eugenia ; Castello, Filippa...
Neuromuscular Disorders.  25 (2015)  4 - p. 333-339 , 2015
Link: https://doi.org/10.1016/..
 
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13

The 9-bp deletion in region V of mtDNA: a risk factor of he..:

Borgione, Eugenia ; Lo Giudice, Mariangela ; Castello, Filippa...
Neurological Sciences.  34 (2013)  7 - p. 1223-1226 , 2013
Link: https://doi.org/10.1007/..
 
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14

Coexistence of mitochondrial and nuclear DNA mutations in a..:

Scuderi, Carmela ; Borgione, Eugenia ; Castello, Filippa...
Mitochondrion.  10 (2010)  5 - p. 548-554 , 2010
Link: https://doi.org/10.1016/..
 
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15

Severe encephalomyopathy in a patient with homoplasmic A581..:

Scuderi, Carmela ; Borgione, Eugenia ; Musumeci, Sebastiano...
Neuromuscular Disorders.  17 (2007)  3 - p. 258-261 , 2007
Link: https://doi.org/10.1016/..
 
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