Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5 .

Autor: Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Cousin MA; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Babovic-Vuksanovic D; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Klee EW; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, United States., Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Vigeland MD; Department of Medical Genetics, Oslo University Hospital, and Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Erichsen AK; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Millan F; GeneDx, Gaithersburg, MD, United States., DeVile C; Great Ormond Street Hospital, London, United Kingdom., Fawcett K; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Department of Health Sciences, University of Leicester, Leicester, United Kingdom., Legendre A; Laboratoire de biologie médicale multisites Seqoia-FMG2025, Paris, France., Sims D; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Schnekenberg RP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet et Laboratoire de Neurogénétique Moléculaire, Département de Génétique, AP-HP. Sorbonne Université, Hôpital Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France., Mercier S; CHU Nantes, Service de génétique médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Nantes, France.; Nantes Université, CNRS, INSERM, l’institut du thorax, Nantes, France., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States.; Departments of Child Health, Neurology, Cellular and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine—Phoenix, Phoenix, AZ, United States., Francisco-Velilla R; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Embarc-Buh A; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Martinez-Salas E; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Wigby K; Department of Pediatrics, University of California San Diego, San Diego, CA, United States.; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Lenberg J; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Friedman JR; Department of Neurosciences, University of California San Diego, San Diego, CA, United States.; Department of Pediatrics, University of California San Diego, San Diego, CA, United States.; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States.; Departments of Child Health, Neurology, Cellular and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine—Phoenix, Phoenix, AZ, United States., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Feb 28; Vol. 10, pp. 783762. Date of Electronic Publication: 2022 Feb 28 (Print Publication: 2022).

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Autor: Kour S; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Shin YB; Department of Rehabilitative Medicine, Pusan National University School of Medicine, Pusan, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Siquier K; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Cantagrel V; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute, Paris, France., Stolerman ES; Greenwood Genetic Center, Greenwood, SC, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Castro D; Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, USA., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lynch D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Collins A; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Gibbons M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Yang M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Desguerre I; Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Gitiaux C; Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER, Barcelona, Spain., Garcia-Oguiza A; Hospital Universitario Miguel Servet, Zaragoza, Spain., Osorio AN; Hospital Sant Joan de Déu, Barcelona, Spain., Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., McCurry HR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Agnihotri S; Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Andriescu EC; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Moody SB; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Phornphutkul C; Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Strom TM; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany., Leiz S; Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, Munchen, Germany., Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wang M; The First People's Hospital of Changde City, Hunan, China., Wang J; Cipher Gene Ltd, Beijing, China., Wang X; Cipher Gene Ltd, Beijing, China., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Wagner M; Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich, Munich, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.

Publikováno v: Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Autor: Rydning SL; Institute of Clinical Medicine, University of Oslo, Norway.; Department of Neurology, Oslo University Hospital, Norway., Koht J; Institute of Clinical Medicine, University of Oslo, Norway.; Department of Neurology, Vestre Viken Hospital, Norway., Sheng Y; Department of Medical Genetics, Oslo University Hospital, Norway., Sowa P; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Norway., Hjorthaug HS; Department of Medical Genetics, Oslo University Hospital, Norway., Wedding IM; Department of Neurology, Oslo University Hospital, Norway., Erichsen AK; Department of Ophthalmology, Oslo University Hospital, Norway., Hovden IA; Department of Clinical Neurophysiology, Oslo University Hospital, Norway., Backe PH; Department of Medical Biochemistry, University of Oslo, Norway.; Department of Microbiology, Oslo University Hospital, Norway., Tallaksen CME; Department of Neurology, Oslo University Hospital, Norway., Vigeland MD; Institute of Clinical Medicine, University of Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Norway.; National Centre for Epilepsy, Oslo University Hospital, Norway.

Publikováno v: Brain : a journal of neurology [Brain] 2019 Apr 01; Vol. 142 (4), pp. e12.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

Autor: Rydning SL; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Dudesek A; Department of Neurology, University of Rostock, Rostock, Germany.; German Center for Neurodegenerative Diseases (DZNE), Rostock, Germany, Germany., Rimmele F; Department of Neurology, University of Rostock, Rostock, Germany.; German Center for Neurodegenerative Diseases (DZNE), Rostock, Germany, Germany., Funke C; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Krüger S; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Biskup S; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.; Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Vigeland MD; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Hjorthaug HS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Sejersted Y; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Tallaksen C; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.

Publikováno v: European journal of neurology [Eur J Neurol] 2018 Jul; Vol. 25 (7), pp. 943-e71. Date of Electronic Publication: 2018 Apr 15.

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Autor: Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Wedding IM; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Koht J; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway., Pihlstrøm L; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Rengmark AH; Department of Neurology, Oslo University Hospital, Oslo, Norway., Henriksen SP; Department of Neurology, Oslo University Hospital, Oslo, Norway., Tallaksen CM; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway.

Publikováno v: PloS one [PLoS One] 2017 Mar 31; Vol. 12 (3), pp. e0174667. Date of Electronic Publication: 2017 Mar 31 (Print Publication: 2017).