Ausgabe 3/2011
Inhalt (12 Artikel)
Call for participation in the neurogenetics consortium within the Human Variome Project
Andrea Haworth, Lars Bertram, Paola Carrera, Joanna L. Elson, Corey D. Braastad, Diane W. Cox, Marc Cruts, Johann T. den Dunnen, Matthew J. Farrer, John K. Fink, Sherifa A. Hamed, Henry Houlden, Dennis R. Johnson, Karen Nuytemans, Francesc Palau, Dipa L. Raja Rayan, Peter N. Robinson, Antonio Salas, Birgitt Schüle, Mary G. Sweeney, Michael O. Woods, Jorge Amigo, Richard G. H. Cotton, Maria-Jesus Sobrido
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)
Ulrich Müller
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Luisa Arrabal, Libertad Teresa, Rocío Sánchez-Alcudia, Margarita Castro, Celia Medrano, Luis Gutiérrez-Solana, Susana Roldán, Aida Ormazábal, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Rafael Artuch, Magdalena Ugarte, Lourdes R. Desviat
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bella, Stefano Di Donato, Franco Taroni, Cinzia Gellera
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
Marialuisa Quadri, Giovanni Cossu, Valeria Saddi, Erik J. Simons, Daniela Murgia, Maurizio Melis, Anna Ticca, Ben A. Oostra, Vincenzo Bonifati
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight
Sojeong Ka, Frank W. Albert, D. Michael Denbow, Svante Pääbo, Paul B. Siegel, Leif Andersson, Finn Hallböök
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
John C. Fyfe, Rabá A. Al-Tamimi, Junlong Liu, Alejandro A. Schäffer, Richa Agarwala, Paula S. Henthorn
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
Antonio Pizzuti, Irene Bottillo, Francesca Inzana, Valentina Lanari, Francesca Buttarelli, Isabella Torrente, Anna Teresa Giallonardo, Alessandro De Luca, Bruno Dallapiccola
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion
Ginevra Zanni, Sabina Barresi, Lorena Travaglini, Laura Bernardini, Teresa Rizza, Maria Cristina Digilio, Eugenio Mercuri, Stefano Cianfarani, Massimiliano Valeriani, Alessandro Ferraris, Letizia Da Sacco, Antonio Novelli, Enza Maria Valente, Bruno Dallapiccola, Enrico Silvio Bertini
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
Shoaib ur Rehman, Shahid Mahmood Baig, Hans Eiberg, Sijad ur Rehman, Ilyas Ahmad, Naveed Altaf Malik, Niels Tommerup, Lars Hansen
Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice
M. Catharine Jawahar, Carolina I. Sari, Yvette M. Wilson, Andrew J. Lawrence, Thomas Brodnicki, Mark Murphy
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5
Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki, Akatsuki Kubota, Ayumi Hida, Hisatomo Kowa, Yoko Fukuda, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shigeki Aoki, Shunya Takizawa, Jun Shimizu, Jun Goto, Christopher G. Proud, Shoji Tsuji