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Mora, Marina
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1

Management of hypocalcemia following thyroid surgery in chi..:

Romera, Andrea ; Barragán, Lourdes ; Álvarez-Baena, Lucía...
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

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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3

A novel PNPLA2 mutation causing total loss of RNA and prote..:

Tavian, Daniela ; Maggi, Lorenzo ; Mora, Marina...
Genes & Diseases.  8 (2021)  1 - p. 73-78 , 2021
Link: https://doi.org/10.1016/..
 
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4

Muscle Proteomic Profile before and after Enzyme Replacemen..:

Moriggi, Manuela ; Capitanio, Daniele ; Torretta, Enrica...
International Journal of Molecular Sciences.  22 (2021)  6 - p. 2850 , 2021
Link: https://doi.org/10.3390/..
 
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5

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpresse..:

Infante, Paola ; Abiusi, Emanuela ; Cagnoli, Cinzia...
eLife.  10 (2021)  - p. , 2021
Link: https://doi.org/10.7554/..
 
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6

Circadian Genes as Exploratory Biomarkers in DMD: Results F..:

Rossi, Rachele ; Falzarano, Maria Sofia ; Osman, Hana...
Frontiers in Physiology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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7

Genetic defects are common in myopathies with tubular aggre..:

Gang, Qiang ; Bettencourt, Conceição ; Brady, Stefen...
Annals of Clinical and Translational Neurology.  9 (2021)  1 - p. 4-15 , 2021
Link: https://doi.org/10.1002/..
 
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8

Targeting HDAC8 to ameliorate skeletal muscle differentiati..:

Spreafico, Marco ; Cafora, Marco ; Bragato, Cinzia...
Pharmacological Research.  170 (2021)  - p. 105750 , 2021
Link: https://doi.org/10.1016/..
 
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9

Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alte..:

Conte, Elena ; Pannunzio, Alessandra ; Imbrici, Paola...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Multiomic elucidation of a coding 99-mer repeat-expansion s..:

Ruggieri, Alessandra ; Naumenko, Sergey ; Smith, Martin A....
Acta Neuropathologica.  140 (2020)  2 - p. 231-235 , 2020
Link: https://doi.org/10.1007/..
 
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11

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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12

Myopathic changes associated with psychomotor delay and sei..:

Saredi, Simona ; Cauley, Edmund S. ; Ruggieri, Alessandra...
Muscle & Nerve.  62 (2020)  2 - p. 266-271 , 2020
Link: https://doi.org/10.1002/..
 
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13

Comparative proteomic analyses of Duchenne muscular dystrop..:

Capitanio, Daniele ; Moriggi, Manuela ; Torretta, Enrica...
Journal of Cachexia, Sarcopenia and Muscle.  11 (2020)  2 - p. 547-563 , 2020
Link: https://doi.org/10.1002/..
 
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14

Glycogen storage in a zebrafish Pompe disease model is redu..:

Bragato, Cinzia ; Carra, Silvia ; Blasevich, Flavia...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1866 (2020)  5 - p. 165662 , 2020
Link: https://doi.org/10.1016/..
 
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15

Novel mutation identification and copy number variant detec..:

Cauley, Edmund S. ; Pittman, Alan ; Mummidivarpu, Swati...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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