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Wyszukujesz frazę ""Basal Ganglia Diseases"" wg kryterium: Temat


Tytuł :
Dyskinesia is most centrally situated in an estimated network of extrapyramidal syndrome in Asian patients with schizophrenia: findings from research on Asian psychotropic prescription patterns for antipsychotics.
Autorzy :
Park SC; Department of Psychiatry, Inje University Haeundae Paik Hospital, Busan, Republic of Korea.
Kim GM; Department of Psychiatry, Inje University Haeundae Paik Hospital, Busan, Republic of Korea.
Kato TA; Department of Neuropsychiatry, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
Chong MY; Chang Gung Memorial Hospital, Chiayi, Taiwan.; School of Medicine, Chang Gung University, Kwei-Shan, Taiwan.
Lin SK; Department of Psychiatry, Taipei City Hospital, Songde Branch, Taipei, Taiwan.
Yang SY; Department of Pharmacy, Tapei City Hospital, Songde Branch, Tapei, Taiwan.
Avasthi A; Department of Psychiatry, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Grover S; Department of Psychiatry, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Kallivayalil RA; Pushpagiri Institute of Medical Sciences, Tiruvalla, Kerala, India.
Xiang YT; Center for Cognition and Brain Sciences, University of Macau, Macao SAR, China.
Chee KY; Tunku Abdul Rahman Institute of Neuroscience, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Tanra AJ; Department of Psychiatry, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.
Tan CH; Department of Pharmacology, National University Hospital, Singapore, Singapore.
Sim K; West Region, Institute of Mental Health and Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Sartorius N; Association for the Improvement of Mental Health Programmes, Geneva, Switzerland.
Shinfuku N; Department of Social Welfare, School of Human Sciences, Seinan Gakuin University, Fukuoka, Japan.
Park YC; Department of Neuropsychiatry, Hanyang University Guri Hospital, Guri, Republic of Korea.
Inada T; Department of Psychiatry and Psychobiology, Nagoya University, Graduate School of Medicine, Nagoya, Japan.
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Źródło :
Nordic journal of psychiatry [Nord J Psychiatry] 2021 Jan; Vol. 75 (1), pp. 9-17. Date of Electronic Publication: 2020 Jun 25.
Typ publikacji :
Journal Article
MeSH Terms :
Antipsychotic Agents*/adverse effects
Basal Ganglia Diseases*/chemically induced
Dyskinesias*/drug therapy
Schizophrenia*/drug therapy
Humans ; Prescriptions
Czasopismo naukowe
Tytuł :
Acute parkinsonism and bilateral basal ganglia lesions.
Autorzy :
Silva RAE; Universidade Federal do Rio Grande do Norte, Hospital Universitário Onofre Lopes, Unidade de Distúrbios do Movimento, Natal RN, Brazil.
DE Sousa TAP; Hospital Monsenhor Walfredo Gurgel, Natal RN, Brazil.
Godeiro-Junior C; Universidade Federal do Rio Grande do Norte, Hospital Universitário Onofre Lopes, Unidade de Distúrbios do Movimento, Natal RN, Brazil.
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Źródło :
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2020 Dec; Vol. 78 (12), pp. 816.
Typ publikacji :
Editorial
MeSH Terms :
Basal Ganglia Diseases*/diagnostic imaging
Parkinsonian Disorders*/diagnostic imaging
Basal Ganglia/diagnostic imaging ; Humans
Opinia redakcyjna
Tytuł :
Fahr's syndrome presenting with seizures in SARS-CoV-2 (COVID-19) pneumonia-a case report.
Autorzy :
Demir G; Department of Anesthesiology and Reanimation, Sakarya University Hospital, Adnan Menderes Cad. Sağlık Sok. No:195, 54100, Sakarya, Turkey. .
Balaban O; Department of Anesthesiology and Reanimation, Sakarya University Hospital, Adnan Menderes Cad. Sağlık Sok. No:195, 54100, Sakarya, Turkey.
Tekeci MH; Department of Anesthesiology and Reanimation, Sakarya University Hospital, Adnan Menderes Cad. Sağlık Sok. No:195, 54100, Sakarya, Turkey.
Issı Z; Department of Pain, Sakarya University Hospital, Sakarya, Turkey.
Erdem AF; Department of Anesthesiology and Reanimation, Sakarya University Hospital, Adnan Menderes Cad. Sağlık Sok. No:195, 54100, Sakarya, Turkey.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Nov; Vol. 41 (11), pp. 3063-3065. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Basal Ganglia Diseases/*diagnosis
Calcinosis/*diagnosis
Coronavirus Infections/*complications
Neurodegenerative Diseases/*diagnosis
Pneumonia, Viral/*complications
Seizures/*etiology
Aged ; Basal Ganglia Diseases/complications ; Betacoronavirus ; COVID-19 ; Calcinosis/complications ; Fatal Outcome ; Female ; Humans ; Incidental Findings ; Neurodegenerative Diseases/complications ; Pandemics ; Pneumonia, Viral/virology ; SARS-CoV-2
SCR Disease Name :
Fahr's disease
Czasopismo naukowe
Tytuł :
Sepsis Unmasking Fahr's Disease.
Autorzy :
Mandal AKJ; Wexham Park Hospital, Frimley Health NHS Foundation Trust, Berkshire, United Kingdom.
Patel NB; Wexham Park Hospital, Frimley Health NHS Foundation Trust, Berkshire, United Kingdom.
Missouris CG; Wexham Park Hospital, Frimley Health NHS Foundation Trust, Berkshire, United Kingdom; University of Cyprus Medical School, Nicosia, Cyprus. Electronic address: .
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Źródło :
The American journal of the medical sciences [Am J Med Sci] 2020 Oct; Vol. 360 (4), pp. 406-409. Date of Electronic Publication: 2020 May 21.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Basal Ganglia Diseases/*complications
Calcinosis/*complications
Neurodegenerative Diseases/*complications
Sepsis/*complications
Anti-Bacterial Agents/therapeutic use ; Basal Ganglia Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Diagnosis, Differential ; Humans ; Male ; Middle Aged ; Neurodegenerative Diseases/diagnostic imaging ; Sepsis/diagnosis ; Sepsis/drug therapy ; Tomography, X-Ray Computed ; Treatment Outcome
SCR Disease Name :
Fahr's disease
Czasopismo naukowe
Tytuł :
[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs].
Autorzy :
Sato R; Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine.
Koga M; Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine.
Kanda T; Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine.
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Źródło :
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2020 May 26; Vol. 60 (5), pp. 317-320. Date of Electronic Publication: 2020 Apr 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Basal Ganglia Diseases/*etiology
Basal Ganglia Diseases/*genetics
Carrier Proteins/*genetics
Neurodegenerative Diseases/*genetics
Adult ; Basal Ganglia Diseases/diagnostic imaging ; Basal Ganglia Diseases/metabolism ; Brain/diagnostic imaging ; Brain/metabolism ; Diffusion Tensor Imaging ; Female ; Genetic Association Studies ; Humans ; Iron/metabolism ; Neurodegenerative Diseases/diagnostic imaging ; Neurodegenerative Diseases/etiology ; Neurodegenerative Diseases/metabolism ; Tomography, Emission-Computed, Single-Photon
Czasopismo naukowe
Tytuł :
Identifying key transcription factors for pharmacogenetic studies of antipsychotics induced extrapyramidal symptoms.
Autorzy :
Boloc D; Department of Medicine, University of Barcelona, Barcelona, Spain.
Rodríguez N; Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain.
Torres T; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain.
García-Cerro S; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain.
Parellada M; Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain.
Saiz-Ruiz J; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain.; Hospital Ramon y Cajal, Universidad de Alcala, IRYCIS, Madrid, Spain.
Cuesta MJ; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain.; Department of Psychiatry, Complejo Hospitalario de Navarra. Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.
Bernardo M; Department of Medicine, University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain.; Barcelona Clínic Schizophrenia Unit, Hospital Clínic de Barcelona, Barcelona, Spain.; Spain The August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.
Gassó P; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain.; Spain The August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.
Lafuente A; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain.; Spain The August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.
Mas S; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Madrid, Spain. .; Spain The August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. .
Arnaiz JA; Dept. Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain. .
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Źródło :
Psychopharmacology [Psychopharmacology (Berl)] 2020 Jul; Vol. 237 (7), pp. 2151-2159. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Journal Article; Multicenter Study; Pragmatic Clinical Trial
MeSH Terms :
Antipsychotic Agents/*adverse effects
Basal Ganglia Diseases/*chemically induced
Basal Ganglia Diseases/*genetics
Pharmacogenetics/*methods
Pharmacogenomic Testing/*methods
Transcription Factors/*genetics
Animals ; Basal Ganglia Diseases/metabolism ; Computational Biology/methods ; Follow-Up Studies ; Humans ; Longitudinal Studies ; Mice ; Polymorphism, Single Nucleotide/drug effects ; Polymorphism, Single Nucleotide/physiology ; Prospective Studies ; Protein Binding/drug effects ; Protein Binding/physiology ; Transcription Factors/biosynthesis
Czasopismo naukowe
Tytuł :
[Basal ganglia calcification].
Autorzy :
Auffray-Calvier E; Service de neuroradiologie, hôpital René-et-Guillaume-Laënnec, boulevard Jacques-Monod, 44093 Saint-Herblain cedex 1, France. Electronic address: .
Lintia-Gaultier A; Service de neuroradiologie, hôpital René-et-Guillaume-Laënnec, boulevard Jacques-Monod, 44093 Saint-Herblain cedex 1, France.
Bourcier R; Service de neuroradiologie, hôpital René-et-Guillaume-Laënnec, boulevard Jacques-Monod, 44093 Saint-Herblain cedex 1, France.
Aguilar Garcia J; Service de neuroradiologie, hôpital René-et-Guillaume-Laënnec, boulevard Jacques-Monod, 44093 Saint-Herblain cedex 1, France.
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Transliterated Title :
Calcifications des noyaux gris centraux.
Źródło :
La Revue de medecine interne [Rev Med Interne] 2020 Jun; Vol. 41 (6), pp. 404-412. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Basal Ganglia Diseases*/diagnosis
Basal Ganglia Diseases*/epidemiology
Basal Ganglia Diseases*/etiology
Basal Ganglia Diseases*/metabolism
Calcinosis*/diagnosis
Calcinosis*/epidemiology
Calcinosis*/etiology
Calcinosis*/metabolism
Age of Onset ; Aged ; Aged, 80 and over ; Aging/physiology ; Basal Ganglia/diagnostic imaging ; Basal Ganglia/pathology ; Calcium Phosphates/adverse effects ; Calcium Phosphates/metabolism ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Nerve Degeneration/diagnosis ; Nerve Degeneration/epidemiology ; Nerve Degeneration/etiology ; Nerve Degeneration/metabolism ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
Autorzy :
Saranza G; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
Grütz K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Lang AE; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
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Źródło :
Brain : a journal of neurology [Brain] 2020 May 01; Vol. 143 (5), pp. e36.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Basal Ganglia Diseases*
Dystonia*
Brain ; Humans ; Mutation
SCR Disease Name :
Familial paroxysmal dystonia
Raport
Tytuł :
Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
Autorzy :
Nicolas G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Grangeon L; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Wallon D; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
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Źródło :
Brain : a journal of neurology [Brain] 2020 May 01; Vol. 143 (5), pp. e37.
Typ publikacji :
Letter; Comment
MeSH Terms :
Basal Ganglia Diseases*
Dystonia*
Brain ; Humans ; Mutation
SCR Disease Name :
Familial paroxysmal dystonia
Opinia redakcyjna
Tytuł :
Clinical Reasoning: Seven-year-old girl with progressive gait difficulties.
Autorzy :
Alderson J; From the Department of Neurology (J.A.), Beth Israel Deaconess Medical Center, Boston; and Department of Neurology (P.S.G.), Boston Children's Hospital, MA.
Ghosh PS; From the Department of Neurology (J.A.), Beth Israel Deaconess Medical Center, Boston; and Department of Neurology (P.S.G.), Boston Children's Hospital, MA. .
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Źródło :
Neurology [Neurology] 2020 Feb 25; Vol. 94 (8), pp. 364-367. Date of Electronic Publication: 2020 Feb 07.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Disease Progression*
Alopecia/*diagnosis
Arrhythmias, Cardiac/*diagnosis
Basal Ganglia Diseases/*diagnosis
Diabetes Mellitus/*diagnosis
Gait Disorders, Neurologic/*diagnosis
Hypogonadism/*diagnosis
Intellectual Disability/*diagnosis
Alopecia/complications ; Alopecia/genetics ; Arrhythmias, Cardiac/complications ; Arrhythmias, Cardiac/genetics ; Basal Ganglia Diseases/complications ; Basal Ganglia Diseases/genetics ; Child ; Clinical Decision-Making ; Consanguinity ; Diabetes Mellitus/genetics ; Female ; Gait Disorders, Neurologic/etiology ; Humans ; Hypogonadism/complications ; Hypogonadism/genetics ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Pedigree
SCR Disease Name :
Woodhouse Sakati syndrome
Czasopismo naukowe
Tytuł :
Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion.
Autorzy :
Morris M; From the Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Kwon R; From the Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Chen L; From the Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
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Źródło :
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2020 Feb 01; Vol. 79 (2), pp. 238-241.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 8*
Basal Ganglia Diseases/*genetics
Basal Ganglia Diseases/*pathology
Brain/*pathology
Calcinosis/*genetics
Calcinosis/*pathology
Spherocytosis, Hereditary/*genetics
Spherocytosis, Hereditary/*pathology
Basal Ganglia Diseases/complications ; Calcinosis/complications ; Female ; Humans ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics ; Spherocytosis, Hereditary/complications
SCR Disease Name :
Idiopathic basal ganglia calcification, childhood onset
Czasopismo naukowe
Tytuł :
Novel tau filament fold in corticobasal degeneration.
Autorzy :
Zhang W; MRC Laboratory of Molecular Biology, Cambridge, UK.
Tarutani A; Department of Dementia and Higher Brain Function, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Newell KL; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Murzin AG; MRC Laboratory of Molecular Biology, Cambridge, UK.
Matsubara T; Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
Falcon B; MRC Laboratory of Molecular Biology, Cambridge, UK.
Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Shi Y; MRC Laboratory of Molecular Biology, Cambridge, UK.
Ikeuchi T; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Murayama S; Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Hasegawa M; Department of Dementia and Higher Brain Function, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Goedert M; MRC Laboratory of Molecular Biology, Cambridge, UK. .
Scheres SHW; MRC Laboratory of Molecular Biology, Cambridge, UK. .
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Źródło :
Nature [Nature] 2020 Apr; Vol. 580 (7802), pp. 283-287. Date of Electronic Publication: 2020 Feb 12.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cryoelectron Microscopy*
Basal Ganglia Diseases/*pathology
Cerebral Cortex/*pathology
Tauopathies/*metabolism
Tauopathies/*pathology
tau Proteins/*chemistry
tau Proteins/*ultrastructure
Aged ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Amino Acid Sequence ; Basal Ganglia Diseases/metabolism ; Brain Chemistry ; Cerebral Cortex/metabolism ; Chronic Traumatic Encephalopathy/metabolism ; Chronic Traumatic Encephalopathy/pathology ; Female ; Frontal Lobe/metabolism ; Frontal Lobe/pathology ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pick Disease of the Brain/metabolism ; Pick Disease of the Brain/pathology ; Protein Folding ; tau Proteins/metabolism
Czasopismo naukowe
Tytuł :
Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia.
Autorzy :
Lewis-Smith DJ; Department of Clinical Neurosciences, University of Cambridge, Herchel Smith Building, Cambridge, CB2 0SZ, UK.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Department of Clinical Neurosciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
Wolpe N; Department of Clinical Neurosciences, University of Cambridge, Herchel Smith Building, Cambridge, CB2 0SZ, UK. .; MRC Cognition and Brain Sciences Unit, Cambridge, CB2 7EF, UK. .
Ghosh BCP; Department of Clinical Neurosciences, University of Cambridge, Herchel Smith Building, Cambridge, CB2 0SZ, UK.; Wessex Neuroscience Centre, Southampton, SO16 6YD, UK.
Rowe JB; Department of Clinical Neurosciences, University of Cambridge, Herchel Smith Building, Cambridge, CB2 0SZ, UK.; MRC Cognition and Brain Sciences Unit, Cambridge, CB2 7EF, UK.; Cambridge University Hospitals, NHS Trust, Cambridge, CB2 0QQ, UK.
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Źródło :
Journal of neurology [J Neurol] 2020 Apr; Vol. 267 (4), pp. 1147-1157. Date of Electronic Publication: 2020 Jan 09.
Typ publikacji :
Journal Article
MeSH Terms :
Alien Hand Syndrome/*physiopathology
Apraxias/*physiopathology
Basal Ganglia Diseases/*physiopathology
Aged ; Alien Hand Syndrome/etiology ; Apraxias/etiology ; Basal Ganglia Diseases/complications ; Female ; Humans ; Male ; Middle Aged ; Supranuclear Palsy, Progressive/physiopathology
Czasopismo naukowe
Tytuł :
Fahr's Disease In A Patient Presenting With Status Epilepticus.
Autorzy :
Khalid S; Department of Neurosurgery, Ayub Medical College, Abbottabad, Pakistan.
Khan SA; Department of Neurosurgery, Ayub Medical College, Abbottabad, Pakistan.
Khan AH; Department of Neurosurgery, Ayub Medical College, Abbottabad, Pakistan.
Muhammad G; Department of Neurosurgery, Ayub Medical College, Abbottabad, Pakistan.
Khan AA; Department of Neurosurgery, Ayub Medical College, Abbottabad, Pakistan.
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Źródło :
Journal of Ayub Medical College, Abbottabad : JAMC [J Ayub Med Coll Abbottabad] 2020 Apr- Jun; Vol. 32 (2), pp. 280-282.
Typ publikacji :
Case Reports
MeSH Terms :
Basal Ganglia Diseases*
Calcinosis*/diagnostic imaging
Calcinosis*/pathology
Neurodegenerative Diseases*
Status Epilepticus/*etiology
Brain/diagnostic imaging ; Brain/pathology ; Female ; Humans ; Middle Aged ; Tomography, X-Ray Computed
SCR Disease Name :
Fahr's disease
Raport
Tytuł :
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
Autorzy :
Gao M; Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. .
Huang Y
Zhang K
Lyu Y
Dong R
Ma J
Wang D
Gai Z
Liu Y
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Feb 10; Vol. 37 (2), pp. 162-165.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Basal Ganglia Diseases*/genetics
Membrane Transport Proteins/*genetics
Biotin ; Brain ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mutation ; Thiamine
Czasopismo naukowe
Tytuł :
Chameleons and mimics: Progressive supranuclear palsy and corticobasal degeneration.
Autorzy :
Mimuro M; Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Yoshida M; Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
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Źródło :
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2020 Feb; Vol. 40 (1), pp. 57-67. Date of Electronic Publication: 2019 Sep 12.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Basal Ganglia Diseases/*pathology
Cerebral Cortex/*pathology
Supranuclear Palsy, Progressive/*pathology
Basal Ganglia Diseases/metabolism ; Cerebral Cortex/metabolism ; Diagnosis, Differential ; Humans ; Supranuclear Palsy, Progressive/metabolism ; tau Proteins/metabolism
Czasopismo naukowe
Tytuł :
Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study.
Autorzy :
Ballarini T; Max Planck Institute for Human Cognitive and Brain Sciences Leipzig, Germany. Electronic address: .
Albrecht F; Max Planck Institute for Human Cognitive and Brain Sciences Leipzig, Germany.
Mueller K; Max Planck Institute for Human Cognitive and Brain Sciences Leipzig, Germany.
Jech R; Department of Neurology, Charles University, First Faculty of Medicine, Prague, Czech Republic.
Diehl-Schmid J; Department of Psychiatry and Psychotherapy, Technical University of Munich, Germany.
Fliessbach K; Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Bonn, Germany.
Kassubek J; Department of Neurology, University of Ulm, Germany.
Lauer M; Clinic for Psychiatry, Psychosomatic medicine and Psychotherapy, University Würzburg, Germany.
Fassbender K; Clinic for Neurology, Saarland University, Germany.
Schneider A; Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Bonn, Germany.
Synofzik M; Department of Neurodegenerative Diseases, Centre for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Wiltfang J; University Medical Center Göttingen, Germany.
Otto M; Department of Neurology, University of Ulm, Germany.
Schroeter ML; Max Planck Institute for Human Cognitive and Brain Sciences Leipzig, Germany; Clinic for Cognitive Neurology, University Clinic, Leipzig, Germany.
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Corporate Authors :
FTLD Consortium Germany
4RTNI
Źródło :
NeuroImage. Clinical [Neuroimage Clin] 2020; Vol. 25, pp. 102112. Date of Electronic Publication: 2019 Dec 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Magnetic Resonance Imaging*
Support Vector Machine*
Basal Ganglia Diseases/*diagnostic imaging
Cerebral Cortex/*diagnostic imaging
Gray Matter/*diagnostic imaging
Nerve Net/*diagnostic imaging
Neuroimaging/*methods
Aged ; Basal Ganglia Diseases/pathology ; Basal Ganglia Diseases/physiopathology ; Cerebral Cortex/pathology ; Cerebral Cortex/physiopathology ; Connectome/methods ; Female ; Gray Matter/pathology ; Gray Matter/physiopathology ; Humans ; Male ; Middle Aged ; Multimodal Imaging ; Nerve Net/pathology ; Nerve Net/physiopathology
Czasopismo naukowe
Tytuł :
Familial deep cavitating state with a glutathione metabolism defect.
Autorzy :
Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000, Grenoble, France.
Van Noolen L; CHU Grenoble Alpes, 38000, Grenoble, France.
Garrel C; CHU Grenoble Alpes, 38000, Grenoble, France.
Brocard J; Univ. Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, 38000, Grenoble, France.
Marty I; Univ. Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, 38000, Grenoble, France.
Corne C; CHU Grenoble Alpes, 38000, Grenoble, France.
Fauré J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000, Grenoble, France.
Besson G; Department of Neurology, CHU, Grenoble Alpes, 38000, Grenoble, France.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Dec; Vol. 6 (12), pp. 2573-2578. Date of Electronic Publication: 2019 Nov 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Basal Ganglia Diseases*/etiology
Basal Ganglia Diseases*/genetics
Basal Ganglia Diseases*/metabolism
Basal Ganglia Diseases*/pathology
Brain Diseases, Metabolic, Inborn*/complications
Brain Diseases, Metabolic, Inborn*/genetics
Brain Diseases, Metabolic, Inborn*/metabolism
Brain Diseases, Metabolic, Inborn*/pathology
Glutathione/*metabolism
Adult ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Autorzy :
Nyhan WL; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA. Electronic address: .
McGowan K; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Barshop BA; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
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Źródło :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2019 Dec; Vol. 499, pp. 13-15. Date of Electronic Publication: 2019 Aug 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Basal Ganglia Diseases/*genetics
Biotin/*therapeutic use
Thiamin Pyrophosphokinase/*deficiency
Thiamin Pyrophosphokinase/*genetics
Adult ; Basal Ganglia Diseases/metabolism ; Basal Ganglia Diseases/pathology ; Biotin/blood ; Biotin/urine ; Female ; Humans ; Mutation ; Phenotype ; Thiamin Pyrophosphokinase/metabolism ; Thiamine/therapeutic use
SCR Disease Name :
Basal ganglia disease, biotin-responsive
Czasopismo naukowe
Tytuł :
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.
Autorzy :
Donzuso G; Department 'GF Ingrassia', Section Neuroscience, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy.
Mostile G; Department 'GF Ingrassia', Section Neuroscience, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy.
Nicoletti A; Department 'GF Ingrassia', Section Neuroscience, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy.
Zappia M; Department 'GF Ingrassia', Section Neuroscience, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy. .
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Nov; Vol. 40 (11), pp. 2251-2263. Date of Electronic Publication: 2019 Jul 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Autoimmune Diseases of the Nervous System*
Basal Ganglia Diseases*/genetics
Basal Ganglia Diseases*/metabolism
Basal Ganglia Diseases*/pathology
Basal Ganglia Diseases*/physiopathology
Calcinosis*/genetics
Calcinosis*/metabolism
Calcinosis*/pathology
Calcinosis*/physiopathology
Cockayne Syndrome*
Hypoparathyroidism*
Lupus Vasculitis, Central Nervous System*
Mitochondrial Diseases*
Nervous System Malformations*
Neurodegenerative Diseases*/genetics
Neurodegenerative Diseases*/metabolism
Neurodegenerative Diseases*/pathology
Neurodegenerative Diseases*/physiopathology
Neurotoxicity Syndromes*
Pseudohypoparathyroidism*
Humans
SCR Disease Name :
Aicardi-Goutieres syndrome; Fahr's disease
Czasopismo naukowe

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