Neurogenetics
Collection
Collection
- ISSN: 13646745
Published by Springer
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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency Article
Neurogenetics, 9(3), 183-190.O.T. Betsalel (Ofir), J.M. van de Kamp (Jiddeke M.), C. Martínez-Muñoz (Cristina), E.H. Rosenberg (Efraim), A.P.M. de Brouwer (Arjan), P.J.W. Pouwels (Petra), M.S. van der Knaap (Marjo), G.M.S. Mancini (Grazia), C. Jakobs (Cornelis), B.C. Hamel (Ben), et al. G.S. Salomons (Gajja)
July 2008
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The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population Article
Neurogenetics, 9(4), 271-276.C.S. Lu (Chin-Song), Y.H. Wu-Chou (Yah-Huei), M. van Doeselaar (Marina), E.J. Simons (Erik), H.C. Chang (Hsiu-Chen), G.J. Breedveld (Guido), A. Di Fonzo (Alessio), R.S. Chen (Rou-Shayn), Y.H. Weng (Yi Hsin), S.C. Lai (Szu-Chia), et al. B.A. Oostra (Ben) and V. Bonifati (Vincenzo)
October 2008
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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation Article
Neurogenetics, 10(4), 333-336.M.C.Y. de Wit (Marie Claire), I.F.M. de Coo (René), D. Halley (Dicky), M. Leguin (Maarten) and G.M.S. Mancini (Grazia)
April 2009
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A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Article
Neurogenetics, 10(4), 289-297.E. Brusse (Esther), D.F. Majoor-Krakauer (Danielle), B.M. de Graaf (Bianca), G.H. Visser (Gerhard Henk), S.M.A. Swagemakers (Sigrid), A.J.W. Boon (Andrea), B.A. Oostra (Ben) and A.M. Bertoli Avella (Aida)
April 2009
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Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred Article
Neurogenetics, 11(4), 417-423.G.J. Breedveld (Guido), G. Fabbrini (Giovanni), B.A. Oostra (Ben), A. Berardelli (Alfredo) and V. Bonifati (Vincenzo)
October 2010
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Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability Article
Neurogenetics, 12(1), 33-39.L. Santoro (Lucio), G.J. Breedveld (Guido), F. Manganelli (Fiore), R. Iodice (Rosa), C. Pisciotta (Chiara), M. Nolano (Maria), F. Punzo (Francesca), M. Quarantelli (Mario), S. Pappatà (Sabina), A. Di Fonzo (Alessio), et al. B.A. Oostra (Ben) and V. Bonifati (Vincenzo)
February 2011
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OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users Article
Neurogenetics, 12(1), 79-82.M.L. Becker (Matthijs), L.E. Visser (Loes), R.H.N. van Schaik (Ron), A. Hofman (Albert), A.G. Uitterlinden (André) and B.H.Ch. Stricker (Bruno)
February 2011
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Broadening the phenotype of TARDBP mutations: The TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia Article
Neurogenetics, 12(3), 203-209.M. Quadri (Marialuisa), G. Cossu (Giovanni), V. Saddi (Valeria), E.J. Simons (Erik), D. Murgia (Daniela), M. Melis (Maurizio), A. Ticca (Anna), B.A. Oostra (Ben) and V. Bonifati (Vincenzo)
August 2011