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Anna Rubegni
161  results:
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1

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD):

Aguti, Sara ; Gallus, Gian Nicola ; Bianchi, Silvia...
Cells.  13 (2024)  4 - p. 329 , 2024
Link: https://doi.org/10.3390/..
 
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2

Novel COX11 Mutations Associated with Mitochondrial Disorde..:

Caron-Godon, Chenelle A. ; Della Vecchia, Stefania ; Romano, Alessandro...
International Journal of Molecular Sciences.  24 (2023)  23 - p. 16636 , 2023
Link: https://doi.org/10.3390/..
 
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3

InGene 2.0: a step towards the ICT-based diagnosis and moni..:

, In: 2023 Zooming Innovation in Consumer Technologies Conference (ZINC),
Sansone, Francesco ; Tonacci, Alessandro ; Astrea, Guja... - p. 74-76 , 2023
Link: https://doi.org/10.1109/..
 
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4

Using Cluster Analysis to Overcome the Limits of Traditiona..:

Dosi, Claudia ; Rubegni, Anna ; Baldacci, Jacopo...
Genes.  14 (2023)  2 - p. 298 , 2023
Link: https://doi.org/10.3390/..
 
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5

Congenital Myopathy as a Phenotypic Expression of CACNA1S G..:

Marinella, Gemma ; Orsini, Alessandro ; Scacciati, Massimo...
Genes.  14 (2023)  7 - p. 1363 , 2023
Link: https://doi.org/10.3390/..
 
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6

Additive effect of DNAJC30 and NDUFA9 mutations causing Lei..:

Nesti, Claudia ; Ticci, Chiara ; Rubegni, Anna...
Journal of Neurology.  , 2023
Link: https://doi.org/10.1007/..
 
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7

Automatic Recognition of Ragged Red Fibers in Muscle Biopsy..:

Baldacci, Jacopo ; Calderisi, Marco ; Fiorillo, Chiara..
Healthcare.  10 (2022)  3 - p. 574 , 2022
Link: https://doi.org/10.3390/..
 
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8

A Schematic Approach to Defining the Prevalence of COL VI V..:

Marinella, Gemma ; Astrea, Guja ; Buchignani, Bianca...
International Journal of Molecular Sciences.  23 (2022)  23 - p. 14567 , 2022
Link: https://doi.org/10.3390/..
 
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9

Novel biomarkers for limb girdle muscular dystrophy (LGMD) ..:

Lopergolo, Diego ; Gallus, Gian Nicola ; Aguti, Sara...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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10

Neuroimaging patterns in paediatric onset hereditary spasti..:

Dosi, Claudia ; Pasquariello, Rosa ; Ticci, Chiara...
Journal of the Neurological Sciences.  425 (2021)  - p. 117441 , 2021
Link: https://doi.org/10.1016/..
 
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11

Expanding the clinical and genetic spectrum of pathogenic v..:

Ticci, Chiara ; Cassandrini, Denise ; Rubegni, Anna...
Muscle & Nerve.  64 (2021)  5 - p. 567-575 , 2021
Link: https://doi.org/10.1002/..
 
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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

Bi‐allelic variants in MDH2: Expanding the clinical phenoty..:

Ticci, Chiara ; Nesti, Claudia ; Rubegni, Anna...
Clinical Genetics.  101 (2021)  2 - p. 260-264 , 2021
Link: https://doi.org/10.1111/..
 
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14

New pathogenic variants in COQ4 cause ataxia and neurodevel..:

Mero, Serena ; Salviati, Leonardo ; Leuzzi, Vincenzo...
Journal of Neurology.  , 2021
Link: https://doi.org/10.1007/..
 
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15

The Diagnostic Approach to Mitochondrial Disorders in Child..:

Tolomeo, Deborah ; Orsucci, Daniele ; Nesti, Claudia...
Journal of Clinical Medicine.  10 (2021)  15 - p. 3222 , 2021
Link: https://doi.org/10.3390/..
 
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