Search Results - Tamieka Whyte
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Bi-allelic mutations in MYL1 cause a severe congenital myopathy by Gianina Ravenscroft, Irina Zaharieva, Carlo Augusto Bortolotti, Matteo Lambrughi, Marcello Pignataro, Marco Borsari, Caroline A. Sewry, Rahul Phadke, Göknur Haliloğlu, Royston Ong, Hayley Goullée, Tamieka Whyte, Adnan Manzur, Beril Talim, Ülkühan Kaya, Daniel P. S. Osborn, Alistair R. R. Forrest, Nigel G. Laing, Francesco Muntoni
Published 2018Artigo -
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling by Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan
Published 2013Artigo -
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Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment by Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline A. Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Lopes Abath Neto, Umbertina Conti Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl‐Wagner, Rolf Stucka, Christian de Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek
Published 2017Artigo
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Biology
Cell biology
Gene
Genetics
Endocrinology
Function (biology)
Internal medicine
Medicine
Mutation
Phosphorylation
Zebrafish
Biochemistry
Bioinformatics
Biopsy
Brain function
Calcium
Calcium signaling
Cataracts
Chemistry
Congenital muscular dystrophy
Congenital myopathy
Dystroglycan
Enzyme
Exome sequencing
Extracellular matrix
Glycoprotein
Glycosylation
Glycosyltransferase
Hypotonia
Inositol