Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Heiberg AD"'
Autor:
Schlüter, Agatha1,2 (AUTHOR), Vélez-Santamaría, Valentina1,2,3 (AUTHOR), Verdura, Edgard1,2 (AUTHOR), Rodríguez-Palmero, Agustí1,2,4 (AUTHOR), Ruiz, Montserrat1,2 (AUTHOR), Fourcade, Stéphane1,2 (AUTHOR), Planas-Serra, Laura1,2 (AUTHOR), Launay, Nathalie1,2 (AUTHOR), Guilera, Cristina1,2 (AUTHOR), Martínez, Juan José1,2 (AUTHOR), Homedes-Pedret, Christian3,5 (AUTHOR), Albertí-Aguiló, M. Antonia3 (AUTHOR), Zulaika, Miren6,7 (AUTHOR), Martí, Itxaso6,7,8 (AUTHOR), Troncoso, Mónica9 (AUTHOR), Tomás-Vila, Miguel10 (AUTHOR), Bullich, Gemma11 (AUTHOR), García-Pérez, M. Asunción12 (AUTHOR), Sobrido-Gómez, María-Jesús2,13,14 (AUTHOR), López-Laso, Eduardo2,15,16 (AUTHOR)
Publikováno v:
Genome Medicine. 9/7/2023, Vol. 15 Issue 1, p1-19. 19p.
Autor:
Veronese, Matteo, Kallabis, Sebastian, Kaczmarek, Alexander Tobias, Das, Anushka, Robers, Lennart, Schumacher, Simon, Lofrano, Alessia, Brodesser, Susanne, Müller, Stefan, Hofmann, Kay, Krüger, Marcus, Rugarli, Elena I.
Publikováno v:
Life Science Alliance; Aug2024, Vol. 7 Issue 8, p1-20, 20p
Autor:
Novarino G; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Fenstermaker AG; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt., Hofree M; Department of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA., Silhavy JL; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Heiberg AD; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Abdellateef M; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Rosti B; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Scott E; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Mansour L; Department of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt., Masri A; Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman 11942, Jordan., Kayserili H; Istanbul University, Istanbul Medical Faculty, Medical Genetics Department, 34093 Istanbul, Turkey., Al-Aama JY; Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt., Karminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Kara M; Department of Pediatrics, Tripoli Children's Hospital, Tripoli, Libya., Kara B; Kocaeli University, Medical Faculty, Department of Pediatric Neurology, 41380 Umuttepe, Kocaeli, Turkey., Bozorgmehri B; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Ben-Omran T; Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar., Mojahedi F; Mashhad Medical Genetic Counseling Center, 91767 Mashhad, Iran., El Din Mahmoud IG; Department of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt., Bouslam N; Université Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco., Bouhouche A; Université Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco., Benomar A; Université Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco., Hanein S; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France., Raymond L; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France., Forlani S; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France., Mascaro M; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Selim L; Department of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt., Shehata N; Department of Pediatrics and Neonatology, Saudi German Hospital, Post Office Box 84348, Riyadh, Kingdom of Saudi Arabia., Al-Allawi N; Department of Pathology, School of Medicine, University of Dohuk, Dohuk, Iraq., Bindu PS; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Azam M; Department of Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan., Gunel M; Department of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Caglayan A; Department of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Bilguvar K; Department of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA., Tolun A; Department of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt., Schroth J; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Spencer EG; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Rosti RO; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Akizu N; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Vaux KK; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Johansen A; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Koh AA; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Megahed H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt., Durr A; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.; Assistance Publique-Hôpitaux de Paris, Fédération de Génétique, Pitié-Salpêtrière Hospital, 75013 Paris, France., Brice A; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.; Assistance Publique-Hôpitaux de Paris, Fédération de Génétique, Pitié-Salpêtrière Hospital, 75013 Paris, France.; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France., Stevanin G; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.; Assistance Publique-Hôpitaux de Paris, Fédération de Génétique, Pitié-Salpêtrière Hospital, 75013 Paris, France.; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France.; Laboratoire de Neurogénétique, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France., Gabriel SB; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA., Ideker T; Department of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA., Gleeson JG; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Publikováno v:
Science (New York, N.Y.) [Science] 2014 Jan 31; Vol. 343 (6170), pp. 506-511.
Autor:
Chen, Jiannan1 (AUTHOR), Zhao, Zhe1 (AUTHOR), Shen, Hongrui1 (AUTHOR), Bing, Qi1 (AUTHOR), Li, Nan1 (AUTHOR), Guo, Xuan1 (AUTHOR), Hu, Jing1 (AUTHOR) jinghu5510@163.com
Publikováno v:
BMC Neurology. 5/16/2022, Vol. 22 Issue 1, p1-14. 14p.
Autor:
Okamoto, Nobuhiko1 (AUTHOR) okamoto@osaka.email.ne.jp, Miya, Fuyuki2,3,4 (AUTHOR), Tsunoda, Tatsuhiko2,3,4 (AUTHOR), Kanemura, Yonehiro5,6 (AUTHOR), Saitoh, Shinji7 (AUTHOR), Kato, Mitsuhiro8 (AUTHOR), Yanagi, Kumiko9 (AUTHOR), Kaname, Tadashi9 (AUTHOR), Kosaki, Kenjiro10 (AUTHOR)
Publikováno v:
Neurological Sciences. Apr2022, Vol. 43 Issue 4, p2765-2774. 10p. 3 Black and White Photographs, 1 Chart.
Autor:
Byrne, Dwayne J.1,2 (AUTHOR), Garcia-Pardo, M. Elena1 (AUTHOR), Cole, Nelson B.2 (AUTHOR), Batnasan, Belguun1 (AUTHOR), Heneghan, Sophia1 (AUTHOR), Sohail, Anood1 (AUTHOR), Blackstone, Craig2,3,4 (AUTHOR), O'Sullivan, Niamh C.1 (AUTHOR) niamh.osullivan@ucd.ie
Publikováno v:
Acta Neuropathologica Communications. 3/28/2022, Vol. 10 Issue 1, p1-20. 20p.
Autor:
Cogan G; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Keren B; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Guillaud-Bataille M; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Renaldo F; APHP Sorbonne Université, Service de Neuropédiatrie, Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Isapof A; APHP Sorbonne Université, Service de Neuropédiatrie, Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Lallemant P; APHP Sorbonne Université, Service de Médecine Physique et de Réadaptation Pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université, Institut du Cerveau, Paris Brain Institute ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Stevanin G; Sorbonne Université, Institut du Cerveau, Paris Brain Institute ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bordeaux University, INCIA, UMR5287, CNRS, EPHE, 33000, Bordeaux, France., Guillot-Noel L; Sorbonne Université, Institut du Cerveau, Paris Brain Institute ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Courtin T; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Buratti J; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Freihuber C; APHP Sorbonne Université, Service de Neuropédiatrie, Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92130, USA., Howarth R; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92130, USA., Durr A; Sorbonne Université, Institut du Cerveau, Paris Brain Institute ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., de Sainte Agathe JM; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France., Mignot C; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France. cyril.mignot@aphp.fr.; Sorbonne Université, Institut du Cerveau, Paris Brain Institute ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France. cyril.mignot@aphp.fr.
Publikováno v:
Human genetics [Hum Genet] 2024 Oct 04. Date of Electronic Publication: 2024 Oct 04.
Autor:
Cook SR; Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, USA., Schwarz C; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Guevar J; AniCura Thun, Neurology Department, Burgerstrasse, Switzerland., Assenmacher CA; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sheehy M; Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, USA., Fanzone N; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Church ME; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Murgiano L; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Casal ML; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Gutierrez-Quintana R; Small Animal Hospital, School of Biodiversity, One Health, and Veterinary Medicine, University of Glasgow, Glasgow, UK., Lowrie M; Movement Referrals: Independent Veterinary Specialists, Preston Brook, UK., Steffen F; Neurology Service, Department of Small Animals, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Ekenstedt KJ; Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, USA.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Aug 23. Date of Electronic Publication: 2024 Aug 23.
Autor:
Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H.
Publikováno v:
Acta Neuropathologica; Aug2023, Vol. 146 Issue 2, p353-368, 16p
Autor:
Murala, Sireesha1 (AUTHOR) siri.murala@gmail.com, Nagarajan, Elanagan2 (AUTHOR), Bollu, Pradeep C.1 (AUTHOR)
Publikováno v:
Neurological Sciences. 2021, Vol. 42 Issue 3, p883-894. 12p. 4 Charts.