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Martorell, Loreto
142  Ergebnisse:
Personensuche X
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1

Advancing the understanding of VAMP1-related congenital mya..:

Natera-de Benito, Daniel ; Pugliese, Alessia ; Polavarapu, Kiran...
Pediatric Neurology.  , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis a..:

Nou‐Fontanet, Laia ; Martí‐Sánchez, Laura ; Martorell, Loreto..
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Syngeneic hematopoietic stem cell transplantation after mob..:

Sánchez‐Sierra, Nazaret ; Perez‐Somarriba, Marta ; Santa‐Maria, Vicente...
Pediatric Blood & Cancer.  70 (2023)  5 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

Variants in DTNA cause a mild, dominantly inherited muscula..:

Nascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra...
Acta Neuropathologica.  145 (2023)  4 - p. 479-496 , 2023
Link: https://doi.org/10.1007/..
 
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6

Action Induced Myoclonus in a 11‐Year‐Old Boy with Silver‐R..:

Nou‐Fontanet, Laia ; García‐Navas, Deyanira ; Gómez‐Martín, Hilario..
Movement Disorders Clinical Practice.  10 (2023)  6 - p. 1013-1015 , 2023
Link: https://doi.org/10.1002/..
 
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7

Coexistence of junctional epidermolysis bullosa, autosomal ..:

Amato, Maria Eugenia ; Ricart, Silvia ; Vicente, Maria Asunción...
Clinical Case Reports.  11 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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8

Advanced Optical Microscopy: Unveiling Functional Insights ..:

Roldán, Mònica ; Nolasco, Gregorio Alexander ; Armengol, Lluís...
International Journal of Molecular Sciences.  24 (2023)  18 - p. 13699 , 2023
Link: https://doi.org/10.3390/..
 
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9

Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Dru..:

López-Ramos, Maria Goretti ; Vinent, Joan ; Aarnoutse, Rob...
Antibiotics.  12 (2023)  2 - p. 272 , 2023
Link: https://doi.org/10.3390/..
 
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10

Acetazolamide Improves Episodic Ataxia in a Patient with No..:

Martorell, Loreto ; Macaya, Alfons ; Pérez‐Dueñas, Belén.
Movement Disorders Clinical Practice.  9 (2022)  7 - p. 979-982 , 2022
Link: https://doi.org/10.1002/..
 
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11

The diagnosis of the first‐documented intragenic KANSL1 mic..:

Martorell, Loreto ; Yubero, Delia ; Capdevila, Esther Cuatrecasas...
Clinical Genetics.  101 (2022)  5-6 - p. 575-576 , 2022
Link: https://doi.org/10.1111/..
 
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12

Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case ..:

Yubero, Delia ; Martorell, Loreto ; Nunes, Tania..
Movement Disorders.  37 (2022)  11 - p. 2320-2321 , 2022
Link: https://doi.org/10.1002/..
 
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13

The landscape of submicroscopic structural variants at theO..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena...
Proceedings of the National Academy of Sciences.  119 (2022)  27 - p. , 2022
Link: https://doi.org/10.1073/..
 
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14

Paroxysmal Non‐Kinesigenic Dyskinesia: Utility of the Quant..:

Soliani, Luca ; Martorell, Loreto ; Yubero, Delia...
Movement Disorders Clinical Practice.  9 (2021)  2 - p. 252-254 , 2021
Link: https://doi.org/10.1002/..
 
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15

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Cli..:

Martínez-Monseny, Antonio F. ; Edo, Albert ; Casas-Alba, Dídac...
International Journal of Molecular Sciences.  22 (2021)  10 - p. 5180 , 2021
Link: https://doi.org/10.3390/..
 
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