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Wyszukujesz frazę ""DYSTONIA"" wg kryterium: Temat


Starter badań:

Tytuł:
Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene.
Autorzy:
Akter M; Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA; Department of Biology, University of Louisiana at Lafayette, Lafayette LA 70503, USA.
Cui H; Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA.
Chen YH; Genome Engineering and iPSC Center (GEiC), Washington University in St Louis, MO 63110, USA.
Ding B; Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2022 Jul; Vol. 62, pp. 102807. Date of Electronic Publication: 2022 May 05.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural
MeSH Terms:
Dystonia*/genetics
Dystonic Disorders*
Induced Pluripotent Stem Cells*
Cell Line ; Child ; Dystonia Musculorum Deformans ; Humans ; Molecular Chaperones/genetics ; Mutation/genetics
SCR Disease Name:
Dystonia musculorum deformans type 1
Czasopismo naukowe
Tytuł:
p97/UBXD1 Generate Ubiquitylated Proteins That Are Sequestered into Nuclear Envelope Herniations in Torsin-Deficient Cells.
Autorzy:
Prophet SM; Department of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT 06520, USA.
Naughton BS; Department of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT 06520, USA.
Schlieker C; Department of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT 06520, USA.; Department of Cell Biology, Yale School of Medicine, New Haven, CT 06520, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 21; Vol. 23 (9). Date of Electronic Publication: 2022 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
Adaptor Proteins, Vesicular Transport*/genetics
Adaptor Proteins, Vesicular Transport*/metabolism
Adenosine Triphosphatases*/metabolism
Autophagy-Related Proteins*/genetics
Autophagy-Related Proteins*/metabolism
Dystonia*/genetics
Dystonia*/metabolism
Nuclear Envelope*/metabolism
Nuclear Proteins*/genetics
Nuclear Proteins*/metabolism
Cell Membrane Structures/metabolism ; Dystonia Musculorum Deformans ; Humans ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Nuclear Pore Complex Proteins/metabolism ; Ubiquitin/metabolism
SCR Disease Name:
Dystonia musculorum deformans type 1
Czasopismo naukowe
Tytuł:
Vesicular Acetylcholine Transporter Alters Cholinergic Tone and Synaptic Plasticity in DYT1 Dystonia.
Autorzy:
Tassone A; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Martella G; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Meringolo M; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Vanni V; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Sciamanna G; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Ponterio G; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Imbriani P; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Bonsi P; Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Pisani A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; IRCCS Mondino Foundation, Pavia, Italy.
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Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Dec; Vol. 36 (12), pp. 2768-2779. Date of Electronic Publication: 2021 Jun 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonia*
Acetylcholinesterase/metabolism ; Animals ; Cholinergic Agents/metabolism ; Corpus Striatum/metabolism ; Dystonia Musculorum Deformans ; Mice ; Molecular Chaperones/metabolism ; Neuronal Plasticity ; Vesicular Acetylcholine Transport Proteins/metabolism
SCR Disease Name:
Dystonia musculorum deformans type 1
Czasopismo naukowe
Tytuł:
Dystonia, chorea, hemiballismus and other dyskinesias.
Autorzy:
Bologna M; Department of Human Neurosciences, Sapienza University of Rome, Italy; IRCCS Neuromed, Pozzilli (IS), Italy.
Valls-Solè J; Institut d'Investigació Biomèdica August Pi I Sunyer, Villarroel, 170, Barcelona, Spain.
Kamble N; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.
Pal PK; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.
Conte A; Department of Human Neurosciences, Sapienza University of Rome, Italy; IRCCS Neuromed, Pozzilli (IS), Italy.
Guerra A; IRCCS Neuromed, Pozzilli (IS), Italy.
Belvisi D; Department of Human Neurosciences, Sapienza University of Rome, Italy; IRCCS Neuromed, Pozzilli (IS), Italy.
Berardelli A; Department of Human Neurosciences, Sapienza University of Rome, Italy; IRCCS Neuromed, Pozzilli (IS), Italy. Electronic address: .
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Źródło:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2022 Aug; Vol. 140, pp. 110-125. Date of Electronic Publication: 2022 Jun 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Chorea*/diagnosis
Dyskinesias*
Dystonia*/diagnosis
Dystonia*/therapy
Dystonic Disorders*
Humans ; Levodopa
Czasopismo naukowe
Tytuł:
Botulinum toxin injections in jaw-opening dystonia. The lateral pterygoid - maxillary artery problem.
Autorzy:
Ünal S; Ankara University Medical School, Department of Radiology, Turkey.
Tugra Karaarslan-Turk F; Ankara University Medical School, Department of Neurology, Turkey.
Cenk Akbostancı M; Ankara University Medical School, Department of Neurology, Turkey; Ankara University Brain Research Center, Turkey.
Peker E; Ankara University Medical School, Department of Radiology, Turkey.
Yilmaz R; Ankara University Medical School, Department of Neurology, Turkey; Ankara University Brain Research Center, Turkey. Electronic address: .
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Źródło:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2022 Jul; Vol. 101, pp. 217-220. Date of Electronic Publication: 2022 May 26.
Typ publikacji:
Journal Article
MeSH Terms:
Botulinum Toxins, Type A*/therapeutic use
Dystonia*
Female ; Humans ; Male ; Maxillary Artery/diagnostic imaging ; Pterygoid Muscles/diagnostic imaging
Czasopismo naukowe
Tytuł:
Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence.
Autorzy:
Kilic-Berkmen G; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Defazio G; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, USA.
Berardelli A; Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy; IRCCS NEUROMED, Via Atinense 18, 86077 Pozzilli, Italy.
Ferrazzano G; Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy.
Belvisi D; Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy; IRCCS NEUROMED, Via Atinense 18, 86077 Pozzilli, Italy.
Klein C; Institute of Neurogenetics and Department of Neurology, University of Luebeck, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
Bäumer T; Institute of System Motor Science, University of Lübeck, Ratzeburger Allee 160, Lübeck, Germany.
Weissbach A; Institute of Neurogenetics and Department of Neurology, University of Luebeck, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany; Institute of System Motor Science, University of Lübeck, Ratzeburger Allee 160, Lübeck, Germany.
Perlmutter JS; Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St Louis, MO, USA.
Feuerstein J; Department of Neurology, University of Colorado, Aurora, CO, USA.
Jinnah HA; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: .
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Corporate Authors:
Dystonia Coalition Investigators
Źródło:
Journal of the neurological sciences [J Neurol Sci] 2022 Aug 15; Vol. 439, pp. 120319. Date of Electronic Publication: 2022 Jun 10.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Blepharospasm*/diagnosis
Dystonia*/diagnosis
Dystonic Disorders*/diagnosis
Cross-Sectional Studies ; Humans
Czasopismo naukowe
Tytuł:
Automated video analysis of emotion and dystonia in epileptic seizures.
Autorzy:
Hou JC; INRIA Université Nice Côte d'Azur, France.
Thonnat M; INRIA Université Nice Côte d'Azur, France.
Bartolomei F; Aix Marseille Univ, Inserm, INS, Institut de Neurosciences des Systèmes, Marseille, France; APHM, Timone Hospital, Clinical Neurophysiology, Marseille, France.
McGonigal A; Aix Marseille Univ, Inserm, INS, Institut de Neurosciences des Systèmes, Marseille, France; APHM, Timone Hospital, Clinical Neurophysiology, Marseille, France; Mater Hospital and University of Queensland Faculty of Medicine, Brisbane, Australia. Electronic address: .
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Źródło:
Epilepsy research [Epilepsy Res] 2022 Aug; Vol. 184, pp. 106953. Date of Electronic Publication: 2022 May 28.
Typ publikacji:
Journal Article
MeSH Terms:
Dystonia*
Epilepsies, Partial*/diagnosis
Epilepsy*
Epilepsy, Partial, Motor*
Electroencephalography/methods ; Emotions ; Humans ; Seizures/diagnostic imaging
Czasopismo naukowe
Tytuł:
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
Autorzy:
D'Onofrio G; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Riva A; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina 98100, Italy.
Cali' E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
Gitto E; Intensive Neonatal and Pediatric Care Unit, Department of Pediatrics, University of Messina, Messina 98100, Italy.
Madia F; Unit of Medical Genetics, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
Zara F; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Soler D; Department of Paediatrics, Mater dei Hospital, Msida, Malta. Electronic address: .
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Źródło:
Brain & development [Brain Dev] 2022 Aug; Vol. 44 (7), pp. 469-473. Date of Electronic Publication: 2022 Apr 09.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Dystonia*
Epilepsy*/drug therapy
Epilepsy*/genetics
Rett Syndrome*/genetics
Child ; Extremities ; Female ; Humans ; Muscle Hypotonia ; Receptors, GABA-B
Czasopismo naukowe
Tytuł:
The Necessity of a Locally Active Antidote in the Clinical Practice of Botulinum Neurotoxin Therapy: Short Communication.
Autorzy:
Hefter H; Department of Neurology, Medical Faculty, Heinrich Heine University of Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
Samadzadeh S; Department of Neurology, Medical Faculty, Heinrich Heine University of Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
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Źródło:
Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2022 Jul 14; Vol. 58 (7). Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article
MeSH Terms:
Botulinum Toxins, Type A*/adverse effects
Botulinum Toxins, Type A*/therapeutic use
Deglutition Disorders*/chemically induced
Deglutition Disorders*/drug therapy
Dystonia*/chemically induced
Dystonia*/drug therapy
Antidotes/therapeutic use ; Humans ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Highlighting the Dystonic Phenotype Related to GNAO1.
Autorzy:
Wirth T; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Garone G; University Hospital Pediatric Department, IRCCS Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy.; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Piton A; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France.
Millan F; GeneDx, Gaithersburg, Maryland, USA.
Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.
Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Rudolf G; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Chelly J; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France.
Marks W; Cook Children's Medical Centre, Fort Worth, Texas, USA.
Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France.
Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Castro-Jimenez M; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Joriot S; Department of Paediatric Neurology, University Hospital of Lille, Lille, France.
Ghoumid J; Univ. Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Belin J; Service de neurologie, CHU Tours, Tours, France.
Faucheux JM; Service de neurologie, Hôpital d'Agen, Agen, France.
Blumkin L; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Hull M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA.
Parnes M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Houston, Texas, USA.
Ravelli C; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France.
Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Calmels N; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Laboratoire de diagnostic génétique, Nouvel Hôpital Civil, Hôpitaux universitaires de Strasbourg, Strasbourg, France.
Nemeth AH; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom.
Smith M; Oxford University Hospitals National Health Service Foundation Trust and University of Oxford, Oxford, United Kingdom.
Barnicoat A; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
Ewenczyk C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Méneret A; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Roze E; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Keren B; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Mignot C; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Beroud C; Aix Marseille Université, INSERM, MMG, Bioinformatics & Genetics, Marseille, France.
Acosta F Jr; Cook Children's Medical Centre, Fort Worth, Texas, USA.
Nowak C; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Wilson WG; Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.
Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Capuano A; Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Vidailhet M; Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.; Service de neurologie, Hôpital la Pitié Salpêtrière, Sorbonne Université, Paris, France.
Lin JP; Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom.
Tranchant C; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Doummar D; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France.
Anheim M; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
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Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jul; Vol. 37 (7), pp. 1547-1554. Date of Electronic Publication: 2022 Jun 20.
Typ publikacji:
Journal Article
MeSH Terms:
Dystonia*/genetics
Dystonic Disorders*/genetics
GTP-Binding Protein alpha Subunits, Gi-Go*/genetics
Movement Disorders*/genetics
Parkinsonian Disorders*/genetics
Humans ; Phenotype
Czasopismo naukowe
Tytuł:
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome.
Autorzy:
Dulski J; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.
Cerquera-Cleves C; Neurology Unit, Pontificia Universidad Javeriana, San Ignacio Hospital, Bogotá, Colombia; Movement Disorders Clinic, Clínica Universitaria Colombia, Bogotá, Colombia.
Milanowski L; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.
Kwiatek-Majkusiak J; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.
Koziorowski D; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.
Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Pentela-Nowicka J; Department of Neurology, Medical University of Lodz, Lodz, Poland.
Sławek J; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.
Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: .
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Źródło:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Jul; Vol. 100, pp. 19-23. Date of Electronic Publication: 2022 Jun 04.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskinesia, Drug-Induced*
Dystonia*/drug therapy
Dystonia*/etiology
Dystonic Disorders*/diagnostic imaging
Dystonic Disorders*/drug therapy
Parkinson Disease*/complications
Parkinson Disease*/drug therapy
Parkinson Disease*/pathology
Parkinsonian Disorders*/complications
Parkinsonian Disorders*/diagnostic imaging
Parkinsonian Disorders*/drug therapy
Antiparkinson Agents/adverse effects ; Depression ; Humans ; Hypoventilation ; Levodopa/adverse effects
SCR Disease Name:
Perry Syndrome
Czasopismo naukowe
Tytuł:
Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta-Analysis.
Autorzy:
Aita SL; Department of Psychiatry, Geisel School of Medicine at Dartmouth College, Hanover, New Hampshire, USA.; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Del Bene VA; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Marotta DA; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.; Alabama College of Osteopathic Medicine, Dothan, Alabama, USA.
Pizer JH; Department of Psychology, University of South Alabama, Mobile, Alabama, USA.
Hawley NA; Department of Psychology, University of South Alabama, Mobile, Alabama, USA.
Niccolai L; Supportive Care Medicine, Moffitt Cancer Center, Tampa, Florida, USA.
Walker HC; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Gerstenecker A; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Martin RC; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Clay OJ; Department of Psychology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Crowe M; Department of Psychology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Triebel KL; Department of Neurology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Hill BD; Department of Psychology, University of South Alabama, Mobile, Alabama, USA.
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Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jul; Vol. 37 (7), pp. 1483-1494. Date of Electronic Publication: 2022 Apr 06.
Typ publikacji:
Journal Article; Meta-Analysis
MeSH Terms:
Dystonia*
Dystonic Disorders*
Cognition ; Executive Function ; Humans ; Neuropsychological Tests
Czasopismo naukowe
Tytuł:
Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.
Autorzy:
Aïssa HB; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Sala RW; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Georgescu Margarint EL; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Frontera JL; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Varani AP; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Menardy F; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Pelosi A; Inserm UMR-S 1270, Paris, France.; Sorbonne Université, Sciences and Technology Faculty, Paris, France.; Institut du Fer à Moulin, Paris, France.
Hervé D; Inserm UMR-S 1270, Paris, France.; Sorbonne Université, Sciences and Technology Faculty, Paris, France.; Institut du Fer à Moulin, Paris, France.
Léna C; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
Popa D; Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.
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Źródło:
ELife [Elife] 2022 Jun 14; Vol. 11. Date of Electronic Publication: 2022 Jun 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonia*/genetics
Dystonic Disorders*/genetics
Animals ; Cerebellum ; Disease Models, Animal ; Mice ; Neural Pathways ; Thalamus
Czasopismo naukowe
Tytuł:
Home-Based Measurements of Dystonia in Cerebral Palsy Using Smartphone-Coupled Inertial Sensor Technology and Machine Learning: A Proof-of-Concept Study.
Autorzy:
den Hartog D; Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.
van der Krogt MM; Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Rehabilitation and Development, 1081 BT Amsterdam, The Netherlands.
van der Burg S; Netherlands eScience Center, 1098 XH Amsterdam, The Netherlands.
Aleo I; Moveshelf Labs B.V., 3521 AL Utrecht, The Netherlands.
Gijsbers J; Moveshelf Labs B.V., 3521 AL Utrecht, The Netherlands.
Bonouvrié LA; Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Rehabilitation and Development, 1081 BT Amsterdam, The Netherlands.
Harlaar J; Department Biomechanical Engineering, TU Delft, 2628 CD Delft, The Netherlands.
Buizer AI; Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Rehabilitation and Development, 1081 BT Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Haberfehlner H; Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Rehabilitation and Development, 1081 BT Amsterdam, The Netherlands.; Department of Rehabilitation Sciences, KU Leuven, Campus Bruges, 8200 Bruges, Belgium.
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Źródło:
Sensors (Basel, Switzerland) [Sensors (Basel)] 2022 Jun 09; Vol. 22 (12). Date of Electronic Publication: 2022 Jun 09.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebral Palsy*/diagnosis
Dystonia*/diagnosis
Dystonic Disorders*
Adolescent ; Child ; Humans ; Machine Learning ; Severity of Illness Index ; Smartphone ; Technology
Czasopismo naukowe
Tytuł:
Type 1 neurodegeneration with brain iron accumulation: a case report.
Autorzy:
Labrada-Aguilera PE; 'Lucia Iñiguez Landin' Hospital, Holguin, Cuba.
Guach-Hevia DA; Medical Sciences University, Holguin, Cuba. .
Almira-Gómez CR; Medical Sciences University, Holguin, Cuba.
González-Lago DA; 'Pedro Diaz Coello' Policlinic, Holguin, Cuba.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2022 Jun 03; Vol. 16 (1), pp. 217. Date of Electronic Publication: 2022 Jun 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Deglutition Disorders*/pathology
Dystonia*/drug therapy
Dystonia*/etiology
Adult ; Brain/diagnostic imaging ; Brain/pathology ; Dysarthria ; Humans ; Iron/therapeutic use ; Male ; Young Adult
Czasopismo naukowe
Tytuł:
The Technical Ability and Performing Scale (TAPS): A newly developed patient-reported functional rating scale for Musician's focal dystonia.
Autorzy:
Ramella M; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
Converti RM; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
Giacobbi G; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
Castagna A; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
Saibene E; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
Borgnis F; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy. Electronic address: .
Baglio F; IRCCS Fondazione Don Carlo Gnocchi ONLUS, via Capecelatro, 66, 20148, Milan, Italy.
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Źródło:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Jun; Vol. 99, pp. 79-83. Date of Electronic Publication: 2022 May 20.
Typ publikacji:
Journal Article
MeSH Terms:
Dystonia*
Dystonic Disorders*
Music*
Adult ; Humans ; Patient Reported Outcome Measures ; Reproducibility of Results
SCR Disease Name:
Dystonia, Focal, Task-Specific
Czasopismo naukowe
Tytuł:
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.
Autorzy:
Komatsu K; Department of Biochemistry, Hamamatsu University School of Medicine, Japan.
Fukumura S; Department of Pediatrics, Sapporo Medical University, Japan.
Minagawa K; Department of Pediatrics, Midorigaoka Ryoikuen Hospital and Home for Persons with Severe Motor and Intellectual Disabilities, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Japan. Electronic address: .
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Źródło:
Brain & development [Brain Dev] 2022 Aug; Vol. 44 (7), pp. 474-479. Date of Electronic Publication: 2022 Apr 07.
Typ publikacji:
Case Reports; Review
MeSH Terms:
Autism Spectrum Disorder*
Dystonia*/genetics
Epilepsy, Benign Neonatal*/genetics
Movement Disorders*
Humans ; Male ; Membrane Proteins/genetics ; Mutation ; Nerve Tissue Proteins/genetics ; Pedigree
SCR Disease Name:
Familial paroxysmal dystonia
Recenzja
Tytuł:
Deep Brain Stimulation (DBS) with Subthalamic Nucleus (STN) as Target for Pediatric Patients with PKAN.
Autorzy:
Li H; Department of Pediatrics, Peking University First Hospital, Peking University, Beijing, People's Republic of China.
Li D; Department of Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Yang W; Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Yan H; Department of Anesthesiology, Peking University First Hospital, Peking University, Beijing, People's Republic of China.
Zhao Z; Department of Pediatrics, Peking University First Hospital, Peking University, Beijing, People's Republic of China.
Yang H; Department of Pediatrics, Peking University First Hospital, Peking University, Beijing, People's Republic of China; Department of Pediatric Surgery, Peking University First Hospital, Peking University, Beijing, People's Republic of China. Electronic address: .
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Źródło:
World neurosurgery [World Neurosurg] 2022 Jul; Vol. 163, pp. e317-e322. Date of Electronic Publication: 2022 Apr 01.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Deep Brain Stimulation*
Dystonia*/therapy
Dystonic Disorders*/therapy
Pantothenate Kinase-Associated Neurodegeneration*/therapy
Subthalamic Nucleus*
Child ; Globus Pallidus/surgery ; Humans ; Infant ; Severity of Illness Index ; Treatment Outcome
Czasopismo naukowe
Tytuł:
Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature.
Autorzy:
Dhar D; Department of Neurology, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
Holla VV; Department of Neurology, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
Kamble N; Department of Neurology, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
Yadav R; Department of Neurology, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
Srinivas D; Neurosurgery, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
Pal PK; Department of Neurology, National institute of Mental Health and Neurosciences (NIMHANS, India - 560029), IN.
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Źródło:
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2022 Jun 20; Vol. 12, pp. 22. Date of Electronic Publication: 2022 Jun 20 (Print Publication: 2022).
Typ publikacji:
Journal Article; Review
MeSH Terms:
Deep Brain Stimulation*/adverse effects
Dystonia*/etiology
Dystonic Disorders*/therapy
Hepatolenticular Degeneration*
Movement Disorders*/etiology
Movement Disorders*/surgery
Humans ; India ; Retrospective Studies ; Treatment Outcome ; Tremor/etiology ; Tremor/surgery
Czasopismo naukowe
Tytuł:
Blockade of M4 muscarinic receptors on striatal cholinergic interneurons normalizes striatal dopamine release in a mouse model of TOR1A dystonia.
Autorzy:
Downs AM; Department of Pharmacology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA.
Donsante Y; Department of Pharmacology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA.
Jinnah HA; Department of Neurology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA; Department of Human Genetics, Emory University School of Medicine, 101 Woodruff Circle, WMB 6300, Atlanta, GA 30322, USA; Department of Pediatrics, Emory University School of Medicine, 101 Woodruff Circle, WMB 6300, Atlanta, GA 30322, USA.
Hess EJ; Department of Pharmacology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA; Department of Neurology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA. Electronic address: .
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Źródło:
Neurobiology of disease [Neurobiol Dis] 2022 Jun 15; Vol. 168, pp. 105699. Date of Electronic Publication: 2022 Mar 18.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonia*/drug therapy
Dystonic Disorders*
Animals ; Cholinergic Agents/pharmacology ; Corpus Striatum/metabolism ; Disease Models, Animal ; Dopamine ; Dopamine Agents/pharmacology ; Interneurons/metabolism ; Mice ; Mice, Knockout ; Molecular Chaperones ; Receptors, Muscarinic/metabolism ; Trihexyphenidyl/pharmacology
Czasopismo naukowe

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