Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Autor: Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.

Publikováno v: In The American Journal of Human Genetics 11 July 2013 93(1):6-18

Machine Learning of Infant Spontaneous Movements for the Early Prediction of Cerebral Palsy: A Multi-Site Cohort Study.

Autor: Ihlen EAF; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, 7491 Trondheim, Norway., Støen R; Department of Neonatology, St. Olavs hospital, Trondheim University Hospital, 7006 Trondheim, Norway.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway., Boswell L; Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Regnier RA; Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Fjørtoft T; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway.; Clinic of Clinical Services, St. Olavs hospital, Trondheim University Hospital, 7006 Trondheim, Norway., Gaebler-Spira D; Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Shirley Ryan AbilityLab, Chicago, IL 60611, USA., Labori C; Department of Clinical Therapeutic Services, University Hospital of North Norway, 9038 Tromsø, Norway., Loennecken MC; Department of Pediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0372 Oslo, Norway., Msall ME; University of Chicago Medicine, Comer Children's Hospital, Chicago, IL, Section of Developmental and Behavioral Pediatrics, Chicago, IL.60637, USA.; University of Chicago, Kennedy Research Center on Intellectual and Neurodevelopmental Disabilities, Chicago, IL 60637, USA., Möinichen UI; Department of Pediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0372 Oslo, Norway., Peyton C; Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Pediatrics, Comer Children's Hospital, Department of Physical Therapy and Human Movement Science, Chicago, IL 60637, USA., Schreiber MD; University of Chicago Medicine, Comer Children's Hospital, Chicago, IL, Section of Developmental and Behavioral Pediatrics, Chicago, IL.60637, USA., Silberg IE; Department of Pediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0372 Oslo, Norway., Songstad NT; Department of Pediatrics and Adolescent Medicine, University Hospital of North Norway, 9038 Tromsø, Norway., Vågen RT; Clinic of Clinical Services, St. Olavs hospital, Trondheim University Hospital, 7006 Trondheim, Norway., Øberg GK; Department of Clinical Therapeutic Services, University Hospital of North Norway, 9038 Tromsø, Norway.; Department of Health and Care Sciences, Faculty of Health Sciences, UiT- The Arctic University of Norway, 9019 Tromsø, Norway., Adde L; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway.; Clinic of Clinical Services, St. Olavs hospital, Trondheim University Hospital, 7006 Trondheim, Norway.

Publikováno v: Journal of clinical medicine [J Clin Med] 2019 Dec 18; Vol. 9 (1). Date of Electronic Publication: 2019 Dec 18.