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Merlini, Luciano ( author )
134  Ergebnisse:
Personensuche X
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1

Pompe disease: Design, methodology, and early findings from..:

University of Florida, Gainesville, FL, USA ( host institution ) ; Byrne, Barry J. ( author ) ; Kishnani, Priya S. ( author )...
Molecular Genetics and Metabolism.  , 2011
Link: https://doi.org/10.1016/..
 
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2

The pompe registry: Baseline data from the first five years:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ( author ) ; Byrne, Barry ( author )...
Molecular Genetics and Metabolism.  , 2011
Link: https://doi.org/10.1016/..
 
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3

The Pompe Registry: Baseline Data From the First Five Years:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ( author ) ; Byrne, Barry ( author )...
Clinical Therapeutics.  , 2011
Link: https://doi.org/10.1016/..
 
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4

53. The Pompe Registry: Centralized data collection to trac..:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ( author ) ; Byrne, Barry ( author )...
Molecular Genetics and Metabolism.  , 2008
Link: https://doi.org/10.1016/..
 
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5

The Pompe Registry: Centralized Data Collection to Track th..:

University of Ferrara, Ferrara, Italy ( host institution ) ; Merlini, Luciano ( author ) ; Kishnani, Priya ( author )...
Clinical Therapeutics.  , 2008
Link: https://doi.org/10.1016/..
 
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6

Erratum to "Pompe disease: Design, methodology, and early f..:

University of Florida, Gainesville, FL, USA ( host institution ) ; Byrne, Barry J. ( author ) ; Kishnani, Priya S. ( author )...
Molecular Genetics and Metabolism.  ,
Link: https://doi.org/10.1016/..
 
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7

Characterization of Proteome Changes in Aged and Collagen V..:

Moriggi, Manuela ; Torretta, Enrica ; Cescon, Matilde...
International Journal of Molecular Sciences.  25 (2024)  13 - p. 7118 , 2024
Link: https://doi.org/10.3390/..
 
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8

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanore..:

Cenni, Vittoria ; Sabatelli, Patrizia ; Di Martino, Alberto...
Cells.  13 (2024)  5 - p. 378 , 2024
Link: https://doi.org/10.3390/..
 
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9

Alopecia in Patients with Collagen VI-Related Myopathies: A..:

Starace, Michela ; Pampaloni, Francesca ; Bruni, Francesca...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6678 , 2023
Link: https://doi.org/10.3390/..
 
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10

New Clinical and Immunofluorescence Data of Collagen VI-Rel..:

Merlini, Luciano ; Sabatelli, Patrizia ; Gualandi, Francesca...
International Journal of Molecular Sciences.  24 (2023)  15 - p. 12474 , 2023
Link: https://doi.org/10.3390/..
 
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11

Collagen VI in the Musculoskeletal System:

Di Martino, Alberto ; Cescon, Matilde ; D'Agostino, Claudio...
International Journal of Molecular Sciences.  24 (2023)  6 - p. 5095 , 2023
Link: https://doi.org/10.3390/..
 
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12

Clinical and functional characterization of a long survivor..:

Cardone, Nastasia ; Moula, Melissa ; Baelde, Rianne J....
Acta Neuropathologica Communications.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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13

Early Morphological Changes of the Rectus Femoris Muscle an..:

Sabatelli, Patrizia ; Merlini, Luciano ; Di Martino, Alberto..
International Journal of Environmental Research and Public Health.  19 (2022)  3 - p. 1252 , 2022
Link: https://doi.org/10.3390/..
 
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14

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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15

Protein aggregates and autophagy involvement in a family wi..:

Cassandrini, Denise ; Merlini, Luciano ; Pilla, Federico...
Neuromuscular Disorders.  31 (2021)  1 - p. 44-51 , 2021
Link: https://doi.org/10.1016/..
 
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