Zobrazeno 1 - 10
of 1 597
pro vyhledávání: '"Lafora disease"'
Autor:
Muccioli L; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Vignatelli L; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy., Tappatà M; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy., Mazzone S; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy., Zenesini C; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy., Armstrong D; Parasail LLC, Quincy, Massachusetts, USA., Michelucci R; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy., Bisulli F; IRCCS Istituto Delle Scienze Neurologiche di Bologna - Full member of the ERN EpiCARE, Bologna, Italy francesca.bisulli@unibo.it.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Publikováno v:
BMJ open [BMJ Open] 2024 Oct 18; Vol. 14 (10), pp. e085062. Date of Electronic Publication: 2024 Oct 18.
Autor:
Shukla M; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India., Chugh D; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India., Ganesh S; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India.; Mehta Family Centre for Engineering in Medicine, Indian Institute of Technology, Kanpur 208016, India.; Gangwal School of Medical Sciences and Technology, Indian Institute of Technology, Kanpur 208016, India.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2024 Oct 01; Vol. 17 (10). Date of Electronic Publication: 2024 Oct 14.
Autor:
Rubio T; Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas (CSIC), Jaime Roig 11, 46010, Valencia, Spain., Campos-Rodríguez Á; Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas (CSIC), Jaime Roig 11, 46010, Valencia, Spain., Sanz P; Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas (CSIC), Jaime Roig 11, 46010, Valencia, Spain. sanz@ibv.csic.es.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46010, Valencia, Spain. sanz@ibv.csic.es.
Publikováno v:
Molecular neurobiology [Mol Neurobiol] 2024 Jun; Vol. 61 (6), pp. 3105-3120. Date of Electronic Publication: 2023 Nov 16.
Autor:
Zafra-Puerta L; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain; PhD Program in Neuroscience, Universidad Autonoma de Madrid-Cajal Institute, 28029 Madrid, Spain; Fondazione Malattie Rare Mauro Baschirotto BIRD Onlus, Longare (VI), Italy., Iglesias-Cabeza N; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Burgos DF; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain; PhD Program in Neuroscience, Universidad Autonoma de Madrid-Cajal Institute, 28029 Madrid, Spain., Sciaccaluga M; Section of Neurology, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy; Fondazione Malattie Rare Mauro Baschirotto BIRD Onlus, Longare (VI), Italy., González-Fernández J; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain; Departament of Microbiology and Parasitology, Faculty of Pharmacy, Complutense University of Madrid, University of Perugia, 06132 Perugia, Italy., Bellingacci L; Section of Physiology and Biochemistry, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy., Canonichesi J; Section of Neurology, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy., Sánchez-Martín G; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Costa C; Section of Neurology, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy., Sánchez MP; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain. Electronic address: msanchezg@fjd.es., Serratosa JM; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain. Electronic address: joseserratosa@me.com.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Jul 03; Vol. 32 (7), pp. 2130-2149. Date of Electronic Publication: 2024 May 24.
Autor:
Patil RP; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India., Kumar N; Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India., Kaur A; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India., Munian RK; Department of Mechanical Engineering, Indian Institute of Technology, Kanpur, India; Department of Mechanical Engineering, Indian Institute of Technology Ropar, India., Bhattacharya B; Department of Mechanical Engineering, Indian Institute of Technology, Kanpur, India., Ganesh S; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India; Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India; The Mehta Family Centre for Engineering in Medicine, Indian Institute of Technology Kanpur, India. Electronic address: sganesh@iitk.ac.in., Parihar R; Central Experimental Animal Facility, Indian Institute of Technology, Kanpur, India. Electronic address: rashmip@iitk.ac.in.
Publikováno v:
Neuroscience research [Neurosci Res] 2024 Jul; Vol. 204, pp. 58-63. Date of Electronic Publication: 2024 Mar 06.
Autor:
Krishnan V; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Mazumder AG; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Kamen JL; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Schirmer C; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Adhyapak N; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Bass JS; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Lee SC; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Maheshwari A; Department of Neurology, Peter Kellaway Section of Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, Texas, USA., Molinaro G; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Gibson JR; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Huber KM; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Publikováno v:
The Journal of comparative neurology [J Comp Neurol] 2024 Jul; Vol. 532 (7), pp. e25660.
Autor:
Skurat AV; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA., Segvich DM; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA., Contreras CJ; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA., Hu YC; Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hurley TD; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA. Electronic address: thurley@iu.edu., DePaoli-Roach AA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA. Electronic address: adepaoli@iu.edu., Roach PJ; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, Kentucky, USA.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2024 May; Vol. 300 (5), pp. 107271. Date of Electronic Publication: 2024 Apr 07.
Autor:
Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Kakhlon O; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem, 9112001, Israel., Weil M; Laboratory for Personalized Medicine and Neurodegenerative Diseases, The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv, Israel., Lossos A; Departments of Oncology and Neurology, Leslie and Michael Gaffin Center for Neuro-Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Berge.Minassian@utsouthwestern.edu.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 May; Vol. 16 (5), pp. 1047-1050. Date of Electronic Publication: 2024 Apr 02.
Autor:
Zafra-Puerta L; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; PhD Program in Neuroscience, Universidad Autónoma de Madrid-Cajal, Madrid, Spain; Fondazione Malattie Rare Mauro Baschirotto BIRD Onlus, Longare, Vicenza, Italy. Electronic address: luis.zafra@quironsalud.es., Colpaert M; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, FL 32605, USA. Electronic address: matthieucolpaert@gmail.com., Iglesias-Cabeza N; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: nerea.iglesiasc@quironsalud.es., Burgos DF; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; PhD Program in Neuroscience, Universidad Autónoma de Madrid-Cajal, Madrid, Spain. Electronic address: danielfdezb@gmail.com., Sánchez-Martín G; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: gsinfantes@yahoo.es., Gentry MS; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, FL 32605, USA. Electronic address: matthew.gentry@ufl.edu., Sánchez MP; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: msanchezg@fjd.es., Serratosa JM; Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: joseserratosa@me.com.
Publikováno v:
Epilepsy research [Epilepsy Res] 2024 Feb; Vol. 200, pp. 107317. Date of Electronic Publication: 2024 Feb 06.
Autor:
Flegel T; Department for Small Animals, Veterinary Faculty, Leipzig University, 04103 Leipzig, Germany., Dirauf C; Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany., Kehl A; Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany., Dietzel J; Department for Small Animals, Veterinary Faculty, Leipzig University, 04103 Leipzig, Germany., Holtdirk A; RQM+ (Germany) GmbH, 59229 Ahlen, Germany., Langbein-Detsch I; Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany., Müller E; Department of Molecular Biology, Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany.
Publikováno v:
Genes [Genes (Basel)] 2024 Jan 19; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 19.