نتایج جستجو برای: neuroacanthocytosis

تعداد نتایج: 95  

2013
Marie Miquel Umberto Spampinato Chrystelle Latxague Iciar Aviles-Olmos Benedikt Bader Kelly Bertram Kailash Bhatia Pierre Burbaud Lothar Burghaus Jin Whan Cho Emmanuel Cuny Adrian Danek Thomas Foltynie Pedro J. Garcia Ruiz Santiago Giménez-Roldán Dominique Guehl Jorge Guridi Marwan Hariz Paul Jarman Zinovia Maria Kefalopoulou Patricia Limousin Nir Lipsman Andres M. Lozano Elena Moro Dhita Ngy Maria Cruz Rodriguez-Oroz Huifang Shang Hyeeun Shin Ruth H. Walker Fusako Yokochi Ludvic Zrinzo François Tison

BACKGROUND Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the shor...

2015
Jasmin Schiessl-Weyer Pedro Roa Franco Laccone Britta Kluge Alexander Tichy Euripedes De Almeida Ribeiro Rainer Prohaska Peter Stoeter Claudia Siegl Ulrich Salzer

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of...

2014
Gillian Marie Stanfield Gillian M. Stanfield Alan Grossman Sylvia Sanders Frank Solomon Richard Hynes Christine Li Terry Orr-Weaver Jacquelyn Beals Yi-Chun Wu

Programmed cell death is an important process during the development and life of multicellular organisms. The process by which many cell types undergo programmed cell death is morphologically and mechanistically similar and has been termed apoptosis. To understand how cells achieve this conserved cell-death fate, we have analyzed the genetic control of downstream events in the cell-death proces...

2014
G. Bosman J. Cluitmans M. Adjobo–Hermans M. De M. Abazeed E. J. Brace A. N. Oleskie L. V. Mancour G. Skiniotis R. S. Fuller H. Glaß P. Neumann A. Pal F. N. Gellerich P. Reinhardt H. R. Schöler J. Sterneckert A. Storch A. Hermann A. Hermann S. Karkheiran F. Lupo E. Tibaldi A. Brunati A. Mattè A. Siciliano A. Danek R. H. Walker A. Hermann L. De Franceschi M. Mairhofer C. Siegl G. Hofstätter M. Medjimorec A. Kolbus R. Prohaska A. M. Neiman J.–S. Park R. Policastro L. Needleman L. McGoldrick S. Richelli G. Zanusso M. Ferlisi T. Bovi T. Zanoni L. De Franceschi S. Monaco S. Ferrari S. A. Schneider T. Zoladek W. Rzepnikowska J. Kamińska M. Grynberg B. M. Frey H. H. Jung J. R. Romero A. Markovic G. Schorer B. M. Frey H. H. Jung S. Lee A. Rivera B. Csányi A. Gregory P. Hogarth M. Karakourtis M. Fried–Oken T. Zagustin M. A. Kurian S. J. Hayflick S. J. Hayflick T. Klopstock R. A. Lambrechts B. Srinivasan M. van der Zwaag E. M. Geertsema G. J. Poelarends M. de Villiers O. C. M. Sibon B. Pérez–Dueñas A. Darling M. Serrano A. Decio D. Cuadras I. Gastón S. Aguilera M. Madruga P. Mir M. Pujol A. López L. Martorell C. Tello C. Espinós M. J. Marti J. Connelly C. J. Feeney V. Rabadia J. Xu M. Premyslova C. Peng W. Yu H. Xiong L. Wang T. Nitya–Nootan M. Spino J. Wodzinska J. A. Sánchez–Alcázar M. Oropesa–Ávila J. Garrido–Maraver M. D. Cordero M. de la Mata M. Villanueva Paz A. Delgado Pavón E. Alcocer–Gómez I. de Lavera R. Lema D. Cotán C. Saraceno A. Guglielmi D. Zizioli R. Giuliani G. Borsani E. Monti P. Arosio D. Finazzi C. Bettencourt M. Ryten S. Wiethoff P. Forabosco UKBEC J. Hardy H. Houlden H. Jaskolka A. Klucken N. Ali A. Lopez G. A. Marino A. Nagel N. Scalise M. Sheppard–Whalen M. van Schijndel J.–L. Vasseur P. Wood F. Scalise F. Gauzy–Krieger S. J. Hayflick T. Klopstock M. A. Kurian E. Meyer E. Kara M. Heidari D. Johnstone B. Bassett R. Graham M. Cummins J. Olynyk D. Trinder R. Delima A. Chua M. House E. Milward C. Panteghini A. Legati F. Invernizzi L. Valletta C. Barzaghi C. Reale B. Garavaglia T. Rouault O. C. M. Sibon M. Cruts S. Philtjens I. Gijselinck S. Van Mossevelde J. van der Zee T. Van Langenhove S. Engelborghs M. Vandenbulcke R. Vandenberghe P. Santens P. De Deyn C. Van Broeckhoven A. Danek W. Seifert J. Kühnisch T. Maritzen S. Lommatzsch H. C. Hennies S. Bachmann D. Horn V. Haucke

Erythrocyte structure and function depend upon interactions between proteins in and associated with the membrane, centered around band 3. This protein harbours physiological removal signals and, as a main component of the links between the cytoskeleton and the lipid bilayer, plays a central role in deformability. Also, as a binding partner of hemoglobin and key glycolysis enzymes, band 3 is the...

Journal: :Arquivos de neuro-psiquiatria 2011
Hélio A G Teive

Editorial Huntington's disease like phenotype New data from Brazil and what we know between heaven and earth. Huntington's disease (HD) is an auto-somal dominant neurodegenerative disorder , characterized by involuntary movements , predominantly chorea, associated to behavioral and cognitive impairment 1,2. HD is caused by expansion of a CAG repeat in the coding region of the IT15 gene located ...

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