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Olga Camacho Vanegas

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Simona Lucioli; Betti Giusti; Eugenio Mercuri; Olga Camacho Vanegas; Laura Lucarini; V Pietroni; Andoni Urtizberea; Rabah Ben Yaou; Marianne De Visser; Anneke J van der Kooi; CG Bönnemann; S T Iannaccone; Luciano Merlini; Kate Bushby; Francesco Muntoni; Enrico Bertini; Mon-Li Chu; Guglielmina Pepe
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Letizia Longo; Olga Camacho Vanegas; Meghavi Patel; Vittorio Rosti; Haiqing Li; John Waka; Taha Merghoub; Pier Paolo Pandolfi; Rosario Notaro; Katia Manova-Todorova; Lucio Luzzatto
Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal.
Olga Camacho Vanegas; Rui-Zhu Zhang; Patrizia Sabatelli; Giovanna Lattanzi; Paola Bencivenga; Betti Giusti; Marta Columbaro; Mon-Li Chu; Luciano Merlini; Guglielmina Pepe
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

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All Publications

2005: Simona Lucioli; Betti Giusti; Eugenio Mercuri; Olga Camacho Vanegas; Laura Lucarini; V Pietroni; Andoni Urtizberea; Rabah Ben Yaou; Marianne De Visser; Anneke J van der Kooi; CG Bönnemann; S T Iannaccone; Luciano Merlini; Kate Bushby; Francesco Muntoni; Enrico Bertini; Mon-Li Chu; Guglielmina Pepe
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Neurology 2005;64(11):1931-7.
2002: Letizia Longo; Olga Camacho Vanegas; Meghavi Patel; Vittorio Rosti; Haiqing Li; John Waka; Taha Merghoub; Pier Paolo Pandolfi; Rosario Notaro; Katia Manova-Todorova; Lucio Luzzatto
Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal.
The EMBO journal 2002;21(16):4229-39.
2002: Olga Camacho Vanegas; Rui-Zhu Zhang; Patrizia Sabatelli; Giovanna Lattanzi; Paola Bencivenga; Betti Giusti; Marta Columbaro; Mon-Li Chu; Luciano Merlini; Guglielmina Pepe
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
Muscle & nerve 2002;25(4):513-9.
2002: Guglielmina Pepe; Marianne De Visser; Enrico Bertini; Kate Bushby; Olga Camacho Vanegas; Mon-Li Chu; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Andoni Urtizberea
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(3):296-305.
1999: Guglielmina Pepe; Olga Camacho Vanegas; Olga Rickards; Betti Giusti; P Comeglio; Tamara Brunelli; Rossella Marcucci; Domenico Prisco; Andrea Alberto Conti; Rosanna Abbate
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.
Human genetics 1999;104(2):126-9.
1997: Guglielmina Pepe; Olga Rickards; Olga Camacho Vanegas; Tamara Brunelli; Anna Maria Gori; Betti Giusti; Monica Attanasio; Domenico Prisco; Andrea Alberto Conti; Rosanna Abbate
Prevalence of factor V Leiden mutation in non-European populations.
Thrombosis and haemostasis 1997;77(2):329-31.