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4 articles related to "Neuropaediatrics"

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Articles

Original Research

Published on 04 May 2023

Metabolic markers of short and long-term exogenous DL-beta-hydroxybutyrate supplementation in episodic migraine patients: an exploratory analysis of a randomized-controlled-trial

in Drug Metabolism and Transport

Niveditha Putananickal
Elena C. Gross
Anna-Lena Orsini
Simone Schmidt
Patricia Hafner
Vanya Gocheva
Sara Nagy
Bettina C. Henzi
Daniela Rubino
Sabine Schädelin

Frontiers in Pharmacology

doi 10.3389/fphar.2023.1172483

3,542 views
2 citations

Original Research

Published on 21 Apr 2020

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

in Neuromuscular Disorders and Peripheral Neuropathies

Selena Trifunov
Daniel Natera-de Benito
Jesica Maria Exposito Escudero
Carlos Ortez
Julita Medina
Daniel Cuadras
Carmen Badosa
Laura Carrera
Andres Nascimento
Cecilia Jimenez-Mallebrera

Frontiers in Neurology

doi 10.3389/fneur.2020.00304

5,747 views
20 citations

Case Report

Published on 21 Dec 2023

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

in Human and Medical Genomics

Johanna Moch
Maximilian Radtke
Janina Gburek-Augustat
Maike Karnstedt
Senta Schönnagel
Stephan H. Drukewitz
Laura Pilgram
Julia Hentschel
Isabell Schumann

Frontiers in Genetics

doi 10.3389/fgene.2023.1297754

4,105 views
1 citation

Clinical Case Study

Published on 23 Mar 2015

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

in Genetics of Common and Rare Diseases

Sara Brito
Kyle Thompson
Jaume Campistol
Jaime Colomer
Steven A. Hardy
Langping He
Ana Fernández-Marmiesse
Lourdes Palacios
Cristina Jou
Cecilia Jiménez-Mallebrera

Frontiers in Genetics

doi 10.3389/fgene.2015.00102

10,151 views
20 citations