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Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

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Title: Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
Authors: Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Galiart E; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Seidl B; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Peckova A; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia., Takacsova A; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia., Vyhnalkova E; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Grecmalova D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia., Vlckova E; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia., Skutilova V; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Stettner GM; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Source: Frontiers in medicine [Front Med (Lausanne)] 2026 Jan 08; Vol. 12, pp. 1704209. Date of Electronic Publication: 2026 Jan 08 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
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  Data: <searchLink fieldCode="AU" term="%22Uhrova+Meszarosova+A%22">Uhrova Meszarosova A</searchLink>; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Galiart+E%22">Galiart E</searchLink>; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lassuthova+P%22">Lassuthova P</searchLink>; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Kolokotronis+K%22">Kolokotronis K</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Seidl+B%22">Seidl B</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Musilova+A%22">Musilova A</searchLink>; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Peckova+A%22">Peckova A</searchLink>; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia.<br /><searchLink fieldCode="AU" term="%22Takacsova+A%22">Takacsova A</searchLink>; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia.<br /><searchLink fieldCode="AU" term="%22Vyhnalkova+E%22">Vyhnalkova E</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Grecmalova+D%22">Grecmalova D</searchLink>; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia.<br /><searchLink fieldCode="AU" term="%22Vlckova+E%22">Vlckova E</searchLink>; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia.<br /><searchLink fieldCode="AU" term="%22Skutilova+V%22">Skutilova V</searchLink>; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Stettner+GM%22">Stettner GM</searchLink>; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Safka+Brozkova+D%22">Safka Brozkova D</searchLink>; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
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