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GeroScience · 2023 · Vol. 45 · Issue 3 · Springer
Although physiological data suggest that neuromuscular junction (NMJ) dysfunction is a principal mechanism underpinning sarcopenia, genetic studies have implicated few genes involved in NMJ function. Accordingly, we explored whether genes encoding agrin ( AGRN ) and neurotrypsin ( PRSS12 ) were associated with sarcopenia phenotypes: muscle mass, strength and plasma C-terminal agrin fragment (CAF). PhenoScanner was used to dete...
GeroScience · 2021 · Vol. 43 · Issue 5 · Springer
Weak grip strength is a strong predictor of multiple adverse health outcomes and an integral diagnostic component of sarcopenia. However, the limited availability of normative data for certain populations impedes the interpretation of grip performance across adulthood. This study aimed to establish normative data and low grip strength thresholds in a large adult population, and to examine associations between grip strength and...
Human Genetics · 2012 · Vol. 131 · Issue 4 · Springer
Jillian P. Casey; Tiago Magalhaes; Judith M. Conroy; Regina Regan; Naisha Shah; Richard Anney; Denis C. Shields; Brett S. Abrahams; Joana Almeida; Elena Bacchelli; Anthony J. Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Patrick F. Bolton; Thomas Bourgeron; Sean Brennan; Phil Cali; Catarina Correia; Christina Corsello; Marc Coutanche; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Eftichia Duketis; Frederico Duque; Annette Estes; Penny Farrar; Bridget A. Fernandez; Susan E. Folstein; Suzanne Foley; Eric Fombonne; Christine M. Freitag; John Gilbert; Christopher Gillberg; Joseph T. Glessner; Jonathan Green; Stephen J. Guter; Hakon Hakonarson; Richard Holt; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M. Klauck; Alexander Kolevzon; Janine A. Lamb; Marion Leboyer; Ann Le Couteur; Bennett L. Leventhal; Catherine Lord; Sabata C. Lund; Elena Maestrini; Carine Mantoulan; Christian R. Marshall; Helen McConachie; Christopher J. McDougle; Jane McGrath; William M. McMahon; Alison Merikangas; Judith Miller; Fiorella Minopoli; Ghazala K. Mirza; Jeff Munson; Stanley F. Nelson; Gudrun Nygren; Guiomar Oliveira; Alistair T. Pagnamenta; Katerina Papanikolaou; Jeremy R. Parr; Barbara Parrini; Andrew Pickles; Dalila Pinto; Joseph Piven; David J. Posey; Annemarie Poustka; Fritz Poustka; Jiannis Ragoussis; Bernadette Roge; Michael L. Rutter; Ana F. Sequeira; Latha Soorya; Inês Sousa; Nuala Sykes; Vera Stoppioni; Raffaella Tancredi; Maïté Tauber; Ann P. Thompson; Susanne Thomson; John Tsiantis; Herman Van Engeland; John B. Vincent; Fred Volkmar; Jacob A. S. Vorstman; Simon Wallace; Kai Wang; Thomas H. Wassink; Kathy White; Kirsty Wing; Kerstin Wittemeyer; Brian L. Yaspan; Lonnie Zwaigenbaum; Catalina Betancur; Joseph D. Buxbaum; Rita M. Cantor; Edwin H. Cook; Hilary Coon; Michael L. Cuccaro; Daniel H. Geschwind; Jonathan L. Haines; Joachim Hallmayer; Anthony P. Monaco; John I. Nurnberger; Margaret A. Pericak-Vance; Gerard D. Schellenberg; Stephen W. Scherer; James S. Sutcliffe; Peter Szatmari; Veronica J. Vieland; Ellen M. Wijsman; Andrew Green; Michael Gill; Louise Gallagher; Astrid Vicente; Sean Ennis