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Showing 1–5 of 5 results
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Research |
Genotype–phenotype correlations in recessive titinopathies
- Marco Savarese
- , Anna Vihola
- , Emily C. Oates
- , Rita Barresi
- , Chiara Fiorillo
- , Giorgio Tasca
- , Manu Jokela
- , Anna Sarkozy
- , Sushan Luo
- , Jordi Díaz-Manera
- , Christoffer Ehrstedt
- , Ricardo Rojas-García
- , Amets Sáenz
- , Nuria Muelas
- , Fortunato Lonardo
- , Heidi Fodstad
- , Talha Qureshi
- , Mridul Johari
- , Salla Välipakka
- , Helena Luque
- , Philippe Petiot
- , Adolfo López de Munain
- , Marika Pane
- , Eugenio Mercuri
- , Annalaura Torella
- , Vincenzo Nigro
- , Guja Astrea
- , Filippo Maria Santorelli
- , Claudio Bruno
- , Thierry Kuntzer
- , Isabel Illa
- , Juan J. Vílchez
- , Cedric Julien
- , Ana Ferreiro
- , Alessandro Malandrini
- , Chong-Bo Zhao
- , Olivera Casar-Borota
- , Mark Davis
- , Francesco Muntoni
- , Peter Hackman
- & Bjarne Udd
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Research |
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Research |
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
- Luca Rampoldi
- , Carol Dobson-Stone
- , Justin P. Rubio
- , Adrian Danek
- , Richard M. Chalmers
- , Nicholas W. Wood
- , Christine Verellen
- , Xavier Ferrer
- , Alessandro Malandrini
- , Gian M. Fabrizi
- , Robert Brown
- , Jeffery Vance
- , Margaret Pericak-Vance
- , Gabrielle Rudolf
- , Sophie Carrè
- , Elisa Alonso
- , Michela Manfredi
- , Andrea H. Németh
- & Anthony P. Monaco
