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Astrea, Guja
142  results:
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1

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-D..:

Bello, Luca ; Sabbatini, Daniele ; Fusto, Aurora...
Journal of Neuromuscular Diseases.  11 (2024)  2 - p. 285-297 , 2024
Link: https://doi.org/10.3233/..
 
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2

Convolutional Neural Network-Based Automated Segmentation o..:

Aringhieri, Giacomo ; Astrea, Guja ; Marfisi, Daniela...
Journal of Functional Morphology and Kinesiology.  9 (2024)  3 - p. 123 , 2024
Link: https://doi.org/10.3390/..
 
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3

Characterization of Phenotypic Variability in Becker Muscul..:

Ricci, Giulia ; Govoni, Alessandra ; Torri, Francesca...
Journal of Neuromuscular Diseases.  11 (2024)  2 - p. 375-387 , 2024
Link: https://doi.org/10.3233/..
 
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4

KLHL40-Related Myopathy: A Systematic Review and Insight in..:

Buchignani, Bianca ; Marinella, Gemma ; Pasquariello, Rosa...
Genes.  15 (2024)  2 - p. 208 , 2024
Link: https://doi.org/10.3390/..
 
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5

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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6

Correction to: Monoallelic KIF1A-related disorders: a multi..:

Della Vecchia, Stefania ; Tessa, Alessandra ; Dosi, Claudia...
Journal of Neurology.  270 (2023)  4 - p. 2345-2346 , 2023
Link: https://doi.org/10.1007/..
 
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7

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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8

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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9

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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10

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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11

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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12

Genetic modifiers of upper limb function in Duchenne muscul..:

Sabbatini, Daniele ; Fusto, Aurora ; Vianello, Sara...
Journal of Neurology.  269 (2022)  9 - p. 4884-4894 , 2022
Link: https://doi.org/10.1007/..
 
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13

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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14

De novo GRIN2A variants associated with epilepsy and autism..:

Mangano, Giuseppe Donato ; Riva, Antonella ; Fontana, Antonina...
Epilepsy & Behavior.  129 (2022)  - p. 108604 , 2022
Link: https://doi.org/10.1016/..
 
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15

Muscle "islands": An MRI signature distinguishing neurogeni..:

Astrea, Guja ; Morrow, Jasper M ; Manzur, Adnan...
Neuromuscular Disorders.  32 (2022)  2 - p. 142-149 , 2022
Link: https://doi.org/10.1016/..
 
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