Op-brai130095 1708..1717
نویسندگان
چکیده
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Kenton R. Holden, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean-Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch and Penelope Hogarth
منابع مشابه
Modified technique of functional vertical hemilaryngectomy for cancer invading 1 hemicricoid.
BACKGROUND Partial laryngectomy techniques are challenging, especially in young patients where function has to be preserved without compromising the oncologic outcome. We present a modified laryngectomy technique indicated for tumors invading one hemicricoid. METHODS Vertical hemilaryngectomy with reconstruction of neo-glottis by hemi trachea and placement of an endolaryngeal silicon prosthes...
متن کاملThe Identification of the Submillimeter Galaxy Smmj00266+1708
We report the detection of 1.3mm continuum and near-infrared K−band (2.2μm) emission from the submillimeter galaxy SMMJ00266+1708. Although this galaxy is among the brightest sub-mm sources detected in the blank-sky surveys (L ∼ 10L⊙), SMMJ00266+1708 had no reliable optical/nearinfrared counter-part. We used sensitive interferometric 1.3mm observations with the Owens Valley Millimeter Array to ...
متن کاملA cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
متن کامل