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Fernández-Ramos, Joaquín A.
2949  Ergebnisse:
Personensuche X
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1

Validation of a Set of Instruments to Assess Patient- and C..:

Vázquez-Costa, Juan F. ; Branas-Pampillón, María ; Medina-Cantillo, Julita...
Neurology and Therapy.  12 (2022)  1 - p. 89-105 , 2022
Link: https://doi.org/10.1007/..
 
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2

Genetic landscape of Segawa disease in Spain. Long-term tre..:

Fernández-Ramos, Joaquín A. ; De la Torre-Aguilar, María José ; Quintáns, Beatriz...
Parkinsonism & Related Disorders.  94 (2022)  - p. 67-78 , 2022
Link: https://doi.org/10.1016/..
 
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3

PLA2G6-associated neurodegeneration: New insights into brai..:

Darling, Alejandra ; Aguilera-Albesa, Sergio ; Tello, Cristina Aisha...
Parkinsonism & Related Disorders.  61 (2019)  - p. 179-186 , 2019
Link: https://doi.org/10.1016/..
 
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4

The International Working Group on Neurotransmitter related..:

Opladen, Thomas ; Cortès-Saladelafont, Elisenda ; Mastrangelo, Mario...
Molecular Genetics and Metabolism Reports.  9 (2016)  - p. 61-66 , 2016
Link: https://doi.org/10.1016/..
 
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5

Nephrogenic diabetes insipidus: the key element of paradoxi..:

Anton-Gamero, Montserrat ; Garcia-Martinez, Elena ; Fernandez-Ramos, Joaquín..
Pediatric Nephrology.  24 (2009)  11 - p. 2277-2278 , 2009
Link: https://doi.org/10.1007/..
 
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6

Natural history study of spinal muscular atrophy with respi..:

Nuredini, Andi ; Nizzardo, Monica ; Taiana, Michela...
Journal of the Neurological Sciences.  429 (2021)  - p. 119388 , 2021
Link: https://doi.org/10.1016/..
 
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7

Delineating the motor phenotype of SGCE-myoclonus dystonia ..:

Vanegas, Maria I. ; Marcé-Grau, Anna ; Martí-Sánchez, Laura...
Parkinsonism & Related Disorders.  80 (2020)  - p. 165-174 , 2020
Link: https://doi.org/10.1016/..
 
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8

SEMA6B variants cause intellectual disability and alter den..:

Cordovado, Amélie ; Schaettin, Martina ; Jeanne, Médéric...
Human Molecular Genetics.  31 (2022)  19 - p. 3325-3340 , 2022
Link: https://doi.org/10.1093/..
 
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9

Urinary sulphatoxymelatonin as a biomarker of serotonin sta..:

Batllori, Marta ; Molero-Luis, Marta ; Arrabal, Luisa...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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10

COVID-19 in children with neuromuscular disorders:

Natera-de Benito, Daniel ; Aguilera-Albesa, Sergio ; Costa-Comellas, Laura...
Journal of Neurology.  , 2021
Link: https://doi.org/10.1007/..
 
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11

Atrial standstill, debut of a muscular dystrophy:

Tejero-Hernández, M. Ángeles ; Yagüe-Martín, Marta ; Gómez-Guzmán, Elena..
Anales de Pediatría (English Edition).  99 (2023)  6 - p. 435-438 , 2023
Link: https://doi.org/10.1016/..
 
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12

Aurícula silente, inicio de una distrofia muscular:

Tejero-Hernández, M. Ángeles ; Yagüe-Martín, Marta ; Gómez-Guzmán, Elena..
Anales de Pediatría.  99 (2023)  6 - p. 435-438 , 2023
Link: https://doi.org/10.1016/..
 
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13

Validation of a Set of Instruments to Assess Patient- and C..:

Vázquez-Costa, Juan F ; Branas-Pampillón, María ; Medina-Cantillo, Julita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837344/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

Validation of a Set of Instruments to Assess Patient- and C..:

Vázquez-Costa, Juan F ; Branas-Pampillón, María ; Medina-Cantillo, Julita...
2193-8253.  , 2022
Link: http://hdl.handle.net/10..
 
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15

Assessment of intellectual impairment, health‐related quali..:

Keller, Mareike ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1489-1502 , 2021
Link: https://doi.org/10.1002/..
 
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