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Matalonga, L.
274  results:
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1

P181 Trio genome analysis in 45 unsolved children with neur..:

De Benito, D Natera ; Estevez-Arias, B. ; Matalonga, L....
Neuromuscular Disorders.  33 (2023)  - p. S110 , 2023
Link: https://doi.org/10.1016/..
 
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P168 The burden of titin variants on genetic counseling:

Di Feo, M. ; Topf, A. ; Matalonga, L....
Neuromuscular Disorders.  33 (2023)  - p. S107 , 2023
Link: https://doi.org/10.1016/..
 
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3

P192 The open-access treatabolome platform enhances the vis..:

Atalaia, A. ; Thompson, R. ; Matalonga, L....
Neuromuscular Disorders.  33 (2023)  - p. S142 , 2023
Link: https://doi.org/10.1016/..
 
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FP.21 Congenital myasthenic syndrome with Desmin aggregates..:

Polavarapu, K. ; Thompson, R. ; Matalonga, L....
Neuromuscular Disorders.  32 (2022)  - p. S79 , 2022
Link: https://doi.org/10.1016/..
 
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5

P.98 Calculating the genetic prevalence of congenital myast..:

Thompson, R. ; Rodger, S. ; Polavarapu, K....
Neuromuscular Disorders.  32 (2022)  - p. S82 , 2022
Link: https://doi.org/10.1016/..
 
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6

DISTAL MYOPATHIES:

Johari, M. ; Rusanen, S. ; Savarese, M....
Neuromuscular Disorders.  31 (2021)  - p. S72 , 2021
Link: https://doi.org/10.1016/..
 
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7

APPLICATION OF NEXT GENERATION TECHNOLOGIES:

Atalaia, A. ; Thompson, R. ; Matalonga, L....
Neuromuscular Disorders.  31 (2021)  - p. S146-S147 , 2021
Link: https://doi.org/10.1016/..
 
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8

Cardiac and placental mitochondrial characterization in a r..:

Guitart-Mampel, M. ; Gonzalez-Tendero, A. ; Niñerola, S....
Biochimica et Biophysica Acta (BBA) - General Subjects.  1862 (2018)  5 - p. 1157-1167 , 2018
Link: https://doi.org/10.1016/..
 
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9

Neuronopathic Gaucher's disease: induced pluripotent stem c..:

Tiscornia, G. ; Lorenzo Vivas, E. ; Matalonga, L....
Human Molecular Genetics.  23 (2013)  1 - p. 281-281 , 2013
Link: https://doi.org/10.1093/..
 
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10

Improving Diagnostic Precision: Phenotype-Driven Analysis U..:

Estévez-Arias, Berta ; Matalonga, Leslie ; Martorell, Loreto...
Journal of Neuromuscular Diseases.  11 (2024)  3 - p. 647-653 , 2024
Link: https://doi.org/10.3233/..
 
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11

Partial loss of desmin expression due to a leaky splice sit..:

Polavarapu, Kiran ; O'Neil, Daniel ; Thompson, Rachel...
Neuromuscular Disorders.  39 (2024)  - p. 10-18 , 2024
Link: https://doi.org/10.1016/..
 
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12

Increased Diagnostic Yield by Reanalysis of Whole Exome Seq..:

Olimpio, Catarina ; Paramonov, Ida ; Matalonga, Leslie...
Journal of Neuromuscular Diseases.  11 (2024)  4 - p. 767-775 , 2024
Link: https://doi.org/10.3233/..
 
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13

Verification and Validation for a Digital Twin for Augmenti..:

Matalonga, Santiago ; Black, Julie ; Riordan, James
Journal of Intelligent & Robotic Systems.  110 (2024)  3 - p. , 2024
Link: https://doi.org/10.1007/..
 
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14

Advancing the Understanding of Vesicle-Associated Membrane ..:

Natera-de Benito, Daniel ; Pugliese, Alessia ; Polavarapu, Kiran...
Pediatric Neurology.  157 (2024)  - p. 5-13 , 2024
Link: https://doi.org/10.1016/..
 
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15

Innovative Computerized Dystrophin Quantification Method Ba..:

Codina, Anna ; Roldán, Mònica ; Natera-de Benito, Daniel...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6358 , 2023
Link: https://doi.org/10.3390/..
 
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