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Brain & Development
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May 11, 2011
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
Carmen Fons, Patrizia Rizzu, Angels Garcia-Cazorla, et al.
Human Genomics
|
February 9, 2021
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Juan L García-Hernández, Luis A Corchete, Íñigo Marcos-Alcalde, et al.
International Journal of Molecular Sciences
|
June 27, 2020
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
Pedro A Lazo, Juan L García, Paulino Gómez-Puertas, et al.
Epilepsia Open
|
March 22, 2024
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Maria T Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, et al.
Medicina Clinica
|
April 29, 2014
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]
Adriana Ulate-Campos, Carmen Fons, Jaume Campistol, et al.
Developmental Medicine and Child Neurology
|
July 14, 2022
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
Natalia Juliá-Palacios, Cristina Molina-Anguita, María Sigatulina Bondarenko, et al.
Epilepsia
|
August 27, 2009
Epilepsy spectrum in cerebral creatine transporter deficiency
Carmen Fons, Angela Sempere, Francesc X Sanmartí, et al.
Neurobiology of Disease
|
September 12, 2025
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
Helena Rodriguez-Gonzalez, Laia Nou-Fontanet, Aida Ormazabal, et al.
Journal of Alzheimer'S Disease : JAD
|
August 16, 2011
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
Carlos Ortez, Cristina Villar, Carmen Fons, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 25, 2025
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
Laia Nou-Fontanet, Uliana Musokhranova, Alia Ramírez Camacho, et al.
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Search research articles
Search
Showing results (21-30 of 58) with videos related to
Sort By:
Page
of 6
Brain & Development
|
May 11, 2011
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
Carmen Fons, Patrizia Rizzu, Angels Garcia-Cazorla, et al.
Human Genomics
|
February 9, 2021
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Juan L García-Hernández, Luis A Corchete, Íñigo Marcos-Alcalde, et al.
International Journal of Molecular Sciences
|
June 27, 2020
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
Pedro A Lazo, Juan L García, Paulino Gómez-Puertas, et al.
Epilepsia Open
|
March 22, 2024
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Maria T Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, et al.
Medicina Clinica
|
April 29, 2014
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]
Adriana Ulate-Campos, Carmen Fons, Jaume Campistol, et al.
Developmental Medicine and Child Neurology
|
July 14, 2022
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
Natalia Juliá-Palacios, Cristina Molina-Anguita, María Sigatulina Bondarenko, et al.
Epilepsia
|
August 27, 2009
Epilepsy spectrum in cerebral creatine transporter deficiency
Carmen Fons, Angela Sempere, Francesc X Sanmartí, et al.
Neurobiology of Disease
|
September 12, 2025
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
Helena Rodriguez-Gonzalez, Laia Nou-Fontanet, Aida Ormazabal, et al.
Journal of Alzheimer'S Disease : JAD
|
August 16, 2011
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
Carlos Ortez, Cristina Villar, Carmen Fons, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 25, 2025
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
Laia Nou-Fontanet, Uliana Musokhranova, Alia Ramírez Camacho, et al.
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of 6