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9 p, 474.5 KB |
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
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Palones, Esther (Institut d'Investigació Biomèdica Sant Pau) ;
Curto Sánchez, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Plaza, Vicente (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Gonzalez-Quereda, L (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Segarra Casas, Alba (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Querol, Luis (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Bertoletti, Federico (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Rodriguez, María José (Institut d'Investigació Biomèdica Sant Pau) ;
Gallano, Pía (Institut d'Investigació Biomèdica Sant Pau) ;
Crespo Lessmann, Astrid (Universitat Autònoma de Barcelona. Departament de Medicina)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. [...]
2023 -  10.1007/s00415-023-12001-9
Journal of Neurology, 2023
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15 p, 1.7 MB |
Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia : relationship with monoamines and symptomatology
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Afia, Amira Ben (University of Monastir) ;
Vila, Èlia (Institut de Recerca Sant Joan de Déu) ;
Macdowell, Karina S (Centro de Investigación Biomédica en Red de Salud Mental) ;
Ormazabal, Aida (Institut de Recerca Sant Joan de Déu) ;
Leza, Juan Carlos (Centro de Investigación Biomédica en Red de Salud Mental) ;
Haro Abad, Josep Maria (Institut de Recerca Sant Joan de Déu) ;
Artuch, R. (Institut de Recerca Sant Joan de Déu) ;
Ramos, Belén (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Garcia-Bueno, Borja (Centro de Investigación Biomédica en Red de Salud Mental)
The cortico-cerebellar-thalamic-cortical circuit has been implicated in the emergence of psychotic symptoms in schizophrenia (SZ). The kynurenine pathway (KP) has been linked to alterations in glutamatergic and monoaminergic neurotransmission and to SZ symptomatology through the production of the metabolites quinolinic acid (QA) and kynurenic acid (KYNA). [...]
2021 - 10.1186/s12974-021-02260-6
Journal of neuroinflammation, Vol. 18 (September 2021) , art. 198
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22 p, 578.7 KB |
Neurological Syndromes Associated with Anti-GAD Antibodies
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Dade, Maëlle (Sorbonne Université, Inserm, CNRS) ;
Berzero, Giulia (Neuroncology Unit, Italy) ;
Izquierdo, Cristina (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Giry, Marine (Sorbonne Université, Inserm) ;
Benazra, Marion (Sorbonne Université, Inserm) ;
Delattre, Jean-Yves (Sorbonne Université, Inserm) ;
Psimaras, Dimitri (Sorbonne Université, Inserm) ;
Alentorn, Agusti (Sorbonne Université, Inserm)
Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter within the central nervous system. [...]
2020 - 10.3390/ijms21103701
International journal of molecular sciences, Vol. 21 (may 2020)
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15 p, 2.8 MB |
Incorporation of 5-bromo-2'-deoxyuridine into DNA and proliferative behavior of cerebellar neuroblasts : all that glitters is not gold
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Martí-Clúa, Joaquín (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Universitat Autònoma de Barcelona.
Institut de Neurociències
The synthetic halogenated pyrimidine analog, 5-bromo-2-deoxyuridine (BrdU), is a marker of DNA synthesis. This exogenous nucleoside has generated important insights into the cellular mechanisms of the central nervous system development in a variety of animals including insects, birds, and mammals. [...]
2021 - 10.3390/cells10061453
Cells, Vol. 10, Issue 6 (June 2021) , art. 1453
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28 p, 1.6 MB |
The Classification of Autosomal Recessive Cerebellar Ataxias : a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
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Beaudin, Marie (Université Laval. Department of Medicine, Faculty of Medicine) ;
Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Soong, Bing-Weng (Taipei Veterans General Hospital. National Yang-Ming University School of Medicine) ;
Pedroso, Jose Luiz (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology) ;
Barsottini, Orlando G. (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology) ;
Mitoma, Hiroshi (Tokyo Medical University. Medical Education Promotion Center) ;
Tsuji, Shoji (International University of Health and Welfare) ;
Schmahmann, Jeremy D. (Harvard Medical School) ;
Manto, Mario (UMons. Service des Neurosciences) ;
Rouleau, Guy A. (McGill University) ;
Klein, Christopher (Mayo Clinic) ;
Dupre, Nicolas (Université Laval. Department of Medicine, Faculty of Medicine) ;
Universitat Autònoma de Barcelona
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders. [...]
2019 - 10.1007/s12311-019-01052-2
Cerebellum, Vol. 18 (july 2019) , p. 1098-1125
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11 p, 4.2 MB |
Time series modeling of cell cycle exit identifies Brd4 dependent regulation of cerebellar neurogenesis
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Penas Pérez, Clara (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Maloof, M. E. (University of Miami Miller School of Medicine. Center for Therapeutic Innovation. Department of Psychiatry and Behavioral Sciences) ;
Stathias, V. (University of Miami Miller School of Medicine. Center for Therapeutic Innovation. Department of Psychiatry and Behavioral Sciences) ;
Long, J. (University of Miami Miller School of Medicine. Department of Surgery) ;
Tan, S. K. (University of Miami Miller School of Medicine. Department of Psychiatry and Behavioral Sciences) ;
Mier, J. (University of Miami Miller School of Medicine. Department of Neurosurgery. Miami Project to Cure Paralysis) ;
Fang, Y. (The Rockefeller University. Laboratory of Development Neurobiology) ;
Valdes, C. (Florida International University. Computing and Information Sciences) ;
Rodriguez-Blanco, J. (University of Miami Miller School of Medicine. Department of Surgery) ;
Chiang, C. M. (University of Texas Southwestern Medical Center. Simmons Comprehensive Cancer Center. Department of Biochemistry and Department of Pharmacology) ;
Robbins, D. J. (University of Miami Miller School of Medicine. Department of Surgery) ;
Liebl, D. J. (University of Miami Miller School of Medicine. Department of Surgery) ;
Lee, J. K. (University of Miami Miller School of Medicine. Department of Neurosurgery. Miami Project to Cure Paralysis) ;
Hatten, M. E. (The Rockefeller University. Laboratory of Development Neurobiology) ;
Clarke, J. (University of Nebraska. Department of Statistics) ;
Ayad, N. G. (University of Miami Miller School of Medicine. Department of Psychiatry and Behavioral Sciences. Center for Therapeutic Innovation. Sylvester Comprehensive Cancer Center. Miami Project to Cure Paralysis)
Cerebellar neuronal progenitors undergo a series of divisions before irreversibly exiting the cell cycle and differentiating into neurons. Dysfunction of this process underlies many neurological diseases including ataxia and the most common pediatric brain tumor, medulloblastoma. [...]
2019 - 10.1038/s41467-019-10799-5
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3028
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