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Mercedes Serrano

Showing results (81-90 of 107) with videos related to

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Journal of Medical Genetics|October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|October 24, 2020
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic featuresAna García-García, Monserrat Buendia Arellano, Àngela Deyà-Martínez, et al.
Annals of Neurology|March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Brain : a Journal of Neurology|December 15, 2015
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndromeJuan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, et al.
Orphanet Journal of Rare Diseases|February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrumRoser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.
AJNR. American Journal of Neuroradiology|August 15, 2024
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical DevelopmentBar Neeman, Sniya Sudhakar, Asthik Biswas, et al.
Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
Scientific Reports|December 21, 2023
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional studyFlorencia Epifani, Susana María Pujol Serra, Marta Llorens, et al.
Orphanet Journal of Rare Diseases|October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Nature Medicine|July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialJörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
Pageof 11

Showing results (81-90 of 107) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|October 24, 2020
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic featuresAna García-García, Monserrat Buendia Arellano, Àngela Deyà-Martínez, et al.
Annals of Neurology|March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Brain : a Journal of Neurology|December 15, 2015
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndromeJuan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, et al.
Orphanet Journal of Rare Diseases|February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrumRoser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.
AJNR. American Journal of Neuroradiology|August 15, 2024
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical DevelopmentBar Neeman, Sniya Sudhakar, Asthik Biswas, et al.
Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
Scientific Reports|December 21, 2023
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional studyFlorencia Epifani, Susana María Pujol Serra, Marta Llorens, et al.
Orphanet Journal of Rare Diseases|October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Nature Medicine|July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialJörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
Pageof 11