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Wyszukujesz frazę ""Dystonic Disorders"" wg kryterium: Temat


Tytuł :
Successful splint therapy for embouchure dystonia in a trumpet player.
Autorzy :
Mitchell JK; Professor and Section Head, Treatment Planning, Department of Restorative Sciences, The Dental College of Georgia at Augusta University, Augusta, Ga. Electronic address: .
Urbanawiz DE; Assistant Professor, Department of Restorative Sciences, The Dental College of Georgia at Augusta University, Augusta, Ga.
Morgan JC; Professor, Movement and Memory Disorder Programs, Department of Neurology, Medical College of Georgia, Augusta University, Augusta, Ga.
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Źródło :
The Journal of prosthetic dentistry [J Prosthet Dent] 2021 Jun; Vol. 125 (6), pp. 843-845. Date of Electronic Publication: 2020 Jun 12.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia*/therapy
Dystonic Disorders*/therapy
Music*
Humans ; Splints
Czasopismo naukowe
Tytuł :
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Autorzy :
Ferrini A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.
Steel D; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Barwick K; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.
Kurian MA; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 May; Vol. 36 (5), pp. 1104-1114. Date of Electronic Publication: 2021 May 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Dyskinesias*
Dystonic Disorders*/genetics
Movement Disorders*
Adenylyl Cyclases/genetics ; Genotype ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
Is Adult-Onset Dystonia a Rare Disease? Time for Population-Based Studies.
Autorzy :
Defazio G; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Berardelli A; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 May; Vol. 36 (5), pp. 1119-1124. Date of Electronic Publication: 2021 Mar 16.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia*/epidemiology
Dystonic Disorders*/epidemiology
Adult ; Age of Onset ; Humans ; Rare Diseases
Czasopismo naukowe
Tytuł :
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Autorzy :
Lange LM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Junker J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany.
Loens S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany.
Baumann H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Olschewski L; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Schaake S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Madoev H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Petkovic S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kuhnke N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kasten M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany.
Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Marras C; The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
König IR; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Camargos S; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital das Clínicas, The Federal University of Minas Gerais, Belo Horizonte, Brazil.
Ozelius LJ; Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Charlestown, Massachusetts, USA.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 May; Vol. 36 (5), pp. 1086-1103. Date of Electronic Publication: 2021 Jan 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Dystonia*/genetics
Dystonic Disorders*
Adolescent ; Adult ; Anoctamins ; Apoptosis Regulatory Proteins/genetics ; Child ; DNA-Binding Proteins/genetics ; Genotype ; Humans ; Molecular Chaperones ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Tytuł :
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Autorzy :
Masnada S; Child Neurology Unit, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Correa-Vela M; Paediatric Neurology Research Group, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Baide-Mairena H; Paediatric Neurology Research Group, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
Marcé-Grau A; Paediatric Neurology Research Group, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
Parazzini C; Paediatric Radiology and Neuroradiology Department, COALA (Center for Diagnosis and Treatment of Leukodystrophies)-V. Buzzi Children's Hospital, Milan, Italy.
Veggiotti P; Child Neurology Unit, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Milan, Italy.
Perez-Duenas B; Department of Child Neurology, Hospital Valld'Hebron-Institut de Recerca (VHIR), Barcelona, Spain.; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Faculty of Medicine, Universitat Autònoma de Barcelona, UnitatDocentValld'Hebrón, Barcelona, Spain.
Tonduti D; Child Neurology Unit, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Apr; Vol. 36 (4), pp. 1038-1040. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonia*
Dystonic Disorders*
Corpus Striatum/diagnostic imaging ; Humans ; RNA-Binding Proteins
SCR Disease Name :
Dystonia 16
Raport
Tytuł :
Defective Somatosensory Inhibition and Plasticity Are Not Required to Develop Dystonia.
Autorzy :
Latorre A; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Cocco A; Department of Neurology, IRCCS Humanitas Research Hospital, Milan, Italy.; Department of Neuroscience, Catholic University, Milan, Italy.
Bhatia KP; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Erro R; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Baronissi, Italy.
Antelmi E; Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Conte A; Department of Human Neurosciences, Sapienza, University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy.
Rothwell JC; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Rocchi L; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Apr; Vol. 36 (4), pp. 1015-1021. Date of Electronic Publication: 2020 Dec 17.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia*
Dystonic Disorders*
Motor Cortex*
Movement Disorders*
Evoked Potentials, Somatosensory ; Humans ; Somatosensory Cortex ; Transcranial Magnetic Stimulation
Czasopismo naukowe
Tytuł :
Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia.
Autorzy :
Lange LM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Jan; Vol. 36 (1), pp. 84. Date of Electronic Publication: 2020 Dec 07.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Cerebral Palsy*/complications
Cerebral Palsy*/genetics
Dystonia*/complications
Dystonia*/genetics
Dystonic Disorders*/complications
Dystonic Disorders*/genetics
Exome ; Humans ; Syndrome
Czasopismo naukowe
Tytuł :
Treatment of diaphragmatic dystonia with pallidal deep brain stimulation.
Autorzy :
Rahimpour S; Neurosurgery, Duke University, Durham, North Carolina, USA .
Calakos N; Neurology, Duke University, Durham, North Carolina, USA.
Turner DA; Neurology, Duke University, Durham, North Carolina, USA.
Mitchell KT; Neurology, Duke University, Durham, North Carolina, USA.
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Źródło :
BMJ case reports [BMJ Case Rep] 2021 Mar 25; Vol. 14 (3). Date of Electronic Publication: 2021 Mar 25.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Deep Brain Stimulation*
Dystonia*/therapy
Dystonic Disorders*/therapy
Aged ; Female ; Globus Pallidus ; Humans ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Prevalence of Suicidality in Focal and Generalized Dystonia: A Critical and Unrecognized Problem.
Autorzy :
Zeuner KE; From the Department of Neurology (Z.E.Z.), Kiel University, Germany; and Department of Neurology (J.A.v.G.), University of Alabama at Birmingham, Huntsville. .
van Gerpen JA; From the Department of Neurology (Z.E.Z.), Kiel University, Germany; and Department of Neurology (J.A.v.G.), University of Alabama at Birmingham, Huntsville.
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Źródło :
Neurology [Neurology] 2021 Mar 16; Vol. 96 (11), pp. 511-512. Date of Electronic Publication: 2021 Jan 27.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Dystonia*/epidemiology
Dystonic Disorders*/epidemiology
Suicide*
Humans ; Prevalence ; Suicidal Ideation
Opinia redakcyjna
Tytuł :
The spiral axis: A comparison of unaffected first-degree relatives of essential tremor cases vs. controls.
Autorzy :
Louis ED; Department of Neurology, University of Texas Southwestern, Dallas, TX, USA. Electronic address: .
Dowd HN; Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Elkurd M; Department of Neurology, University of Texas Southwestern, Dallas, TX, USA.
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Źródło :
Journal of the neurological sciences [J Neurol Sci] 2021 Mar 15; Vol. 422, pp. 117330. Date of Electronic Publication: 2021 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia*
Dystonic Disorders*
Essential Tremor*/genetics
Humans ; Tremor/genetics
Czasopismo naukowe
Tytuł :
Pallidotomy for Dystonia: A Neglected Procedure?
Autorzy :
Hariz M; Department of Clinical Neuroscience, Umeå University, Umeå, Sweden.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 533-534.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Dystonia*/surgery
Dystonic Disorders*/surgery
Pallidotomy*
Globus Pallidus/surgery ; Humans
Opinia redakcyjna
Tytuł :
Modified Graded Motor Imagery for Musicians' Focal Dystonia: A Case Series.
Autorzy :
Ramella M; IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, Milan 20148, Italy. Tel 02 40308536. .
Borgnis F
Giacobbi G
Castagna A
Baglio F
Cortesi M
Converti RM
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Źródło :
Medical problems of performing artists [Med Probl Perform Art] 2021 Mar; Vol. 36 (1), pp. 10-17.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dystonic Disorders*
Music*
Adult ; Hand ; Humans ; Imagery, Psychotherapy ; Middle Aged ; Pilot Projects
Czasopismo naukowe
Tytuł :
Impact of Psychic Traumatization on the Development of Musicians' Dystonia: Six Exploratory Case Studies.
Autorzy :
Schneider J
Scholz DS
Altenmüller E; Institut für Musikphysiologie und Musiker-Medizin, Hochschule für Musik, Drama und Medien, Neues Haus 1, 30161 Hannover, Germany. Tel +49 511 3100 553. .
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Źródło :
Medical problems of performing artists [Med Probl Perform Art] 2021 Mar; Vol. 36 (1), pp. 1-9.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonia*
Dystonic Disorders*
Music*
Adaptation, Psychological ; Adult ; Humans ; Middle Aged ; Movement
Czasopismo naukowe
Tytuł :
Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.
Autorzy :
Li XY; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Wang L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Guo Y; Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Wan XH; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 780-781. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonia*/genetics
Dystonic Disorders*/genetics
Humans ; Mutation/genetics ; Pedigree ; Vesicular Transport Proteins/genetics
Raport
Tytuł :
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Autorzy :
Tristán-Noguero A; Synaptic Metabolism Laboratory, Sant Joan de Déu Foundation, Research Pediatric Institute (IPR), Sant Joan de Déu Hospital, Barcelona, Spain.
Borràs E; Proteomics Unit, Center for Genomics Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
Molero-Luis M; Department of Clinical Biochemistry, IPR and CIBERER-ISCIII, Sant Joan de Déu Hospital, Barcelona, Spain.
Wassenberg T; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Peters T; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Verbeek MM; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Willemsen M; Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
Pons R; First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Thony B; Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Horvath G; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Yapici Z; Division of Child Neurology, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Friedman J; Departments of Neuroscience and Pediatrics, University of California, San Diego, California, USA.; Rady Children's Hospital and Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Hyland K; Medical Neurogenetics, LLC, Atlanta, Georgia, USA.
Agosta GE; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), and CIBERER, Córdoba, Spain.
Artuch R; Department of Clinical Biochemistry, IPR and CIBERER-ISCIII, Sant Joan de Déu Hospital, Barcelona, Spain.
Sabidó E; Proteomics Unit, Center for Genomics Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
García-Cazorla À; Synaptic Metabolism Laboratory, Sant Joan de Déu Foundation, Research Pediatric Institute (IPR), Sant Joan de Déu Hospital, Barcelona, Spain.; Neurometabolic Unit, Neurology Department, IPR, CIBER ('Centro de investigación Biomédica en Red') of Rare Diseases and Carlos III Healthcare Institute (CIBERER-ISCIII), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Sant Joan de Déu Hospital, Barcelona, Spain.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 690-703. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*
Dystonic Disorders*
Biomarkers ; Humans ; Proteomics ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.
Autorzy :
Ikeda C; Department of Paediatrics, National Hospital Organization, Kumamoto Saishun Medical Center, Koshi, Kumamoto, 861-1196, Japan.
Kawarai T; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-0042, Japan. .
Setoyama C; Faculty of Medicine-Student Laboratory, Tokushima University Graduate School, Tokushima, Japan.
Orlacchio A; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy.; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.
Imamura H; Department of Paediatrics, National Hospital Organization, Kumamoto Saishun Medical Center, Koshi, Kumamoto, 861-1196, Japan.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Mar; Vol. 42 (3), pp. 1217-1219. Date of Electronic Publication: 2020 Oct 07.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonia*/genetics
Dystonic Disorders*/genetics
Parkinsonian Disorders*/genetics
Humans ; Mutation, Missense
Raport
Tytuł :
Variability of Movement Disorders: The Influence of Sensation, Action, Cognition, and Emotions.
Autorzy :
Berlot R; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Rothwell JC; Department of Clinical and Motor Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.
Bhatia KP; Department of Clinical and Motor Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.
Kojović M; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 581-593. Date of Electronic Publication: 2020 Dec 17.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Dystonic Disorders*/therapy
Movement Disorders*/etiology
Cognition ; Emotions ; Humans ; Tremor
Czasopismo naukowe
Tytuł :
We Must Talk about Sex and Focal Dystonia.
Autorzy :
Rafee S; Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
O'Riordan S; Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Reilly R; Trinity Centre for Bioengineering, Trinity College Dublin, Dublin, Ireland.
Hutchinson M; Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 604-608. Date of Electronic Publication: 2021 Jan 27.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonic Disorders*/epidemiology
Movement Disorders*
Torticollis*
Adult ; Humans
Czasopismo naukowe
Tytuł :
Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".
Autorzy :
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Steel D; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.
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Źródło :
Annals of neurology [Ann Neurol] 2021 Mar; Vol. 89 (3), pp. 626. Date of Electronic Publication: 2020 Dec 22.
Typ publikacji :
Letter; Comment
MeSH Terms :
Dystonia*/genetics
Dystonic Disorders*/genetics
Humans ; Lysosomes ; Mutation/genetics ; Vesicular Transport Proteins/genetics
Opinia redakcyjna
Tytuł :
VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.
Autorzy :
Gorodetsky C; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Fasano A; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, Ontario, Canada.; Division of Neurology, University of Toronto, Toronto, Ontario, Canada.; Krembil Brain Institute, Toronto, Ontario, Canada.; Center for Advancing Neurotechnological Innovation to Application (CRANIA), Toronto, Ontario, Canada.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 609. Date of Electronic Publication: 2021 Jan 26.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Dystonia*/genetics
Dystonic Disorders*/genetics
Humans ; Lysosomes ; Vesicular Transport Proteins/genetics
Czasopismo naukowe

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