Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants-Reference-Cited by-同舟云学术

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Published:2024-04 Issue:2 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Wortmann Saskia B.¹^ORCID,Feichtinger Rene G.¹,Abela Lucia¹,van Gemert Loes A.¹^ORCID,Aubart Mélodie¹^ORCID,Dufeu-Berat Claire-Marine¹,Boddaert Nathalie¹^ORCID,de Coo Rene¹,Stühn Lara¹,Hebbink Jasmijn¹,Heinritz Wolfram¹,Hildebrandt Julia¹,Himmelreich Nastassja¹,Korenke Christoph¹,Lehman Anna¹,Leyland Thomas¹,Makowski Christine¹,Martinez Marin Rafael Jenaro¹,Marzin Pauline¹,Mühlhausen Chris¹,Rio Marlène¹,Rotig Agnes¹^ORCID,Roux Charles-Joris¹^ORCID,Schiff Manuel¹^ORCID,Haack Tobias B.¹,Syrbe Steffen¹,Zylicz Stas A.¹,Thiel Christian¹,Veiga da Cunha Maria¹,van Schaftingen Emile¹,Wagner Matias¹^ORCID,Mayr Johannes A.¹^ORCID,Wevers Ron A.¹,Boltshauser Eugen¹,Willemsen Michel A.¹^ORCID

Affiliation:

1. From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.)...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200146

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5. Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia