𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Early onset collagen VI myopathies: Genetic and clinical correlations

✍ Scribed by Laura Briñas; Pascale Richard; Susana Quijano-Roy; Corine Gartioux; Céline Ledeuil; Emmanuelle Lacène; Samira Makri; Ana Ferreiro; Svetlana Maugenre; Haluk Topaloglu; Göknur Haliloglu; Isabelle Pénisson-Besnier; Pierre-Yves Jeannet; Luciano Merlini; Carmen Navarro; Annick Toutain; Denys Chaigne; Isabelle Desguerre; Christine de Die-Smulders; Murielle Dunand; Bernard Echenne; Bruno Eymard; Thierry Kuntzer; Kim Maincent; Michèle Mayer; Ghislaine Plessis; François Rivier; Filip Roelens; Tanya Stojkovic; Ana Lía Taratuto; Fabiana Lubieniecki; Soledad Monges; Christine Tranchant; Louis Viollet; Norma B. Romero; Brigitte Estournet; Pascale Guicheney; Valérie Allamand

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
337 KB
Volume
68
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genetics of recurrent early-onset depres
Genetics of recurrent early-onset depression (GenRED): Design and preliminary clinical characteristics of a repository sample for genetic linkage studies
✍ Levinson, Douglas F. ;Zubenko, George S. ;Crowe, Raymond R. ;DePaulo, Raymond J. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB

## Abstract This is an initial report on a six‐site collaborative project, Genetics of Recurrent Early‐Onset Depression (GenRED). This is a study of a large sample of families with recurrent major depressive disorder (DSM‐IV) beginning by the age 30 in probands or 40 in relatives. Evidence suggests

Clinical, 18F-dopa PET, and genetic anal
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
✍ Ruey-Meei Wu; Din-E Shan; Chen-Ming Sun; Ren-Shyan Liu; Wuh-Liang Hwu; Chun-Hwei 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB 👁 1 views

We report on clinical (18)F-labeled 6-fluorodopa ((18)F-dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early-onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal