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López-Laso, Eduardo
286  Ergebnisse:
Personensuche X
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1

Impact of COVID19 pandemic on patients with rare diseases i..:

Rovira-Remisa, M. Mar ; Moreira, Mónica ; Ventura, Paula Sol...
Molecular Genetics and Metabolism Reports.  35 (2023)  - p. 100962 , 2023
Link: https://doi.org/10.1016/..
 
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2

ClinPrior: an algorithm for diagnosis and novel gene discov..:

Schlüter, Agatha ; Vélez-Santamaría, Valentina ; Verdura, Edgard...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

Clinical improvements after treatment with a low-valine and..:

Pata, Silvia ; Flores-Rojas, Katherine ; Gil, Angel...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

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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5

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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6

Insights into the expanding phenotypic spectrum of inherite..:

Kuseyri Hübschmann, Oya ; Horvath, Gabriella ; Cortès-Saladelafont, Elisenda...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Clinical phenotypes of infantile onset CACNA1A-related diso..:

Gur-Hartman, Tamar ; Berkowitz, Oren ; Yosovich, Keren...
European Journal of Paediatric Neurology.  30 (2021)  - p. 144-154 , 2021
Link: https://doi.org/10.1016/..
 
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8

Consensus guideline for the diagnosis and treatment of tetr..:

on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD) ; Opladen, Thomas ; López-Laso, Eduardo...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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9

Correction to: Consensus guideline for the diagnosis and tr..:

Opladen, Thomas ; López-Laso, Eduardo ; Cortès-Saladelafont, Elisenda...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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10

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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11

Targeted next generation sequencing in patients with infant..:

Ortigoza-Escobar, Juan Dario ; Marti-Sanchez, Laura ; Molero-Luis, Marta...
European Journal of Paediatric Neurology.  21 (2017)  - p. e161 , 2017
Link: https://doi.org/10.1016/..
 
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12

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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13

Infant botulism in Andalusia (Southern Spain):

López-Laso, Eduardo ; Roncero-Sánchez-Cano, Inés ; Arce-Portillo, Elena...
European Journal of Paediatric Neurology.  18 (2014)  3 - p. 321-326 , 2014
Link: https://doi.org/10.1016/..
 
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14

Unraveling the genetic landscape of autosomal recessive Cha..:

Zimoń, Magdalena ; Battaloğlu, Esra ; Parman, Yesim...
neurogenetics.  16 (2014)  1 - p. 33-42 , 2014
Link: https://doi.org/10.1007/..
 
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15

Recommendations for the radiological diagnosis and follow-u..:

Rovira, Àlex ; Ruiz-Falcó, María Luz ; García-Esparza, Elena...
Journal of Neuro-Oncology.  118 (2014)  2 - p. 205-223 , 2014
Link: https://doi.org/10.1007/..
 
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