Turner syndrome. Noonan syndrome. Other syndromes.

Autor: Siguero, JP López¹, Aedo, MJ Martí¹, García, E¹

Publikováno v: Acta Paediatrica. Supplement. Dec99 Supplement 433, Vol. 88 Issue s433, p148-154. 7p.

[Wolfram's syndrome: correlation of clinical signs and neurological images]

Autor: Saiz A, Vila N, Je, Muñoz, Mj, Martí, Francesc Graus, Tolosa E

Publikováno v: Europe PubMed Central

Wolfram's syndrome is defined by the association of diabetes mellitus, diabetes insipidus, optic atrophy and nerve deafness. Other neurological anomalies, such as ataxia, nystagmus, tonic pupil, dizziness, dysarthria, dysphagia and epilepsy are rarel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e9c5cfd1948d86ce9032c2d4b37e49f
https://pubmed.ncbi.nlm.nih.gov/7695938

Intranigral infusion of interleukin-1beta activates astrocytes and protects from subsequent 6-hydroxydopamine neurotoxicity

Autor: Josep Saura, Parés M, Bové J, Pezzi S, Alberch J, Marin C, Tolosa E, Mj, Martí

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::905b14d4436fad2863049f62695e88b0
http://europepmc.org/abstract/med/12694391

Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study.

Autor: Ma Y; Amprion, San Diego, CA, USA., Farris CM; Amprion, San Diego, CA, USA., Weber S; Department of Neurology, University Medical Center Göttingen, Germany; Paracelsus-Elena-Klinik, Kassel, Germany., Schade S; Paracelsus-Elena-Klinik, Kassel, Germany., Nguyen H; Amprion, San Diego, CA, USA., Pérez-Soriano A; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Giraldo DM; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Fernández M; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Soto M; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Cámara A; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Painous C; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Muñoz E; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Valldeoriola F; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Martí MJ; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Clarimon J; H Lundbeck, Valby, Denmark., Kallunki P; H Lundbeck, Valby, Denmark., Ma TC; Department of Neuroscience and Physiology, New York University, Grossman School of Medicine, New York, NY, USA., Alcalay RN; Department of Neurology, Columbia University Irving Medical Center, NY, USA; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Gomes BF; Department of Psychiatry and Neurochemistry, Göteborgs Universitet, Mölndal, Sweden., Blennow K; Department of Psychiatry and Neurochemistry, Göteborgs Universitet, Mölndal, Sweden., Zetterberg H; Department of Psychiatry and Neurochemistry, Göteborgs Universitet, Mölndal, Sweden; Department of Neurology, Sahlgrenska University Hospital, Mölndal, Sweden; Department of Neurodegenerative Disease, Institute of Neurology, and UK Dementia Research Institute, University College London, London, UK; Hong Kong Center for Neurodegenerative Diseases, Clear Water Bay, Hong Kong, China; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA., Constantinescu J; Department of Psychiatry and Neurochemistry, Göteborgs Universitet, Mölndal, Sweden., Mengel D; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases, Tübingen, Germany., Kadam V; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany., Parchi P; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Brockmann K; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases, Tübingen, Germany., Tropea TF; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Siderowf A; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases, Tübingen, Germany., Kang UJ; Department of Neuroscience and Physiology, New York University, Grossman School of Medicine, New York, NY, USA., Compta Y; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Cliínic i Universitari de Barcelona, Barcelona, Spain; IDIBAPS, CIBERNED, ERN-RND, Institut Cliínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Spain., Svenningsson P; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Mollenhauer B; Department of Neurology, University Medical Center Göttingen, Germany; Paracelsus-Elena-Klinik, Kassel, Germany., Concha-Marambio L; Amprion, San Diego, CA, USA. Electronic address: luis@ampriondx.com.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Dec; Vol. 23 (12), pp. 1225-1237.

Corrigendum to "Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study" [Park. Relat. Disord. (2024) 106993].

Autor: Cámara A; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain. Electronic address: acamara@clinic.cat., Compta Y; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain. Electronic address: ycompta@clinic.cat., Baixauli M; Urology Service. Hospital Clinic de Barcelona, Barcelona, Spain., Maragall L; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Pérez-Soriano A; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Montagut N; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Ahuir M; Psychology Unit Hospital Clinic de Barcelona, Barcelona, Spain., Ludeña E; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Peri L; Psychology Unit Hospital Clinic de Barcelona, Barcelona, Spain., Fernández N; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Villote S; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Lopez de Los Reyes JC; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Navarro-Otano J; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Zaro I; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Muñoz E; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Buongiorno M; Hospital Mútua de Terrassa, Terrassa, Spain., Caballol N; Hospital Mois'es Broggi, Sant Joan Despí, Spain., Pont-Sunyer C; Hospital General de Granollers, Granollers, Spain., Puente V; Hospital Del Mar, Barcelona, Spain., Giraldo D; Hospital Comarcal Sant Jaume de Calella, Spain., Valldeoriola F; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Lombraña M; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain., Martí MJ; Parkinson's Disease & Movement Disorders Unit and Hospital de Dia de Malalties Neurodegeneratives (HDMND), Neurology Service, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neuroci'encies, Universitat de Barcelona, Catalonia, Spain.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Oct; Vol. 127, pp. 107059. Date of Electronic Publication: 2024 Aug 14.