000			04751nam a22003615i 4500
001			281564
003			MX-SnUAN
005			20160429154111.0
007			cr nn 008mamaa
008			150903s2005 ne | o |||| 0|eng d
020			_a9781402028984 _99781402028984
024	7		_a10.1007/1402028989 _2doi
035			_avtls000334174
039		9	_a201509030210 _bVLOAD _c201404120701 _dVLOAD _c201404090441 _dVLOAD _y201402041141 _zstaff
040			_aMX-SnUAN _bspa _cMX-SnUAN _erda
050		4	_aRC321-580
100	1		_aDanek, Adrian. _eeditor. _9307346
245	1	0	_aNeuroacanthocytosis Syndromes / _cedited by Adrian Danek.
264		1	_aDordrecht : _bSpringer Netherlands, _c2005.
300			_axvii, 288 páginas _brecurso en línea.
336			_atexto _btxt _2rdacontent
337			_acomputadora _bc _2rdamedia
338			_arecurso en línea _bcr _2rdacarrier
347			_aarchivo de texto _bPDF _2rda
500			_aSpringer eBooks
505	0		_aNeuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons? -- Clinical Context -- The Differential Diagnosis of Neuroacanthocytosis: An Overview -- Acanthocytes and Disorders of Lipoprotein Metabolism -- Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review -- Chorea-Acanthocytosis with the Ehime-Deletion Mutation -- McLeod Syndrome: A Clinical Review -- Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology -- Acanthocytes in Pantothenate Kinase Associated Neurodegeneration -- Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology -- Differential Diagnosis of Serum Creatine Kinase Elevation -- Organ Involvement -- Pathology of Neuroacanthocytosis and of Huntington’s Disease -- Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis -- Epilepsy in Neuroacanthocytosis -- Sleep Features in Chorea-Acanthocytosis -- Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis -- Cardiac Involvement in the Neuroacanthocytosis Syndromes -- Basic Science -- Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis? -- Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network -- The Spectrum of Mutations and Possible Function of the CHAC Gene -- Immunohematology of the Kell and KX Blood Group Systems -- C. Elegans as a Disease Model for Neuroacanthocytosis -- The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme -- Endothelins as Basal Ganglia Transmitters -- Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntington’s Disease and Chorea-Acanthocytosis -- Huntington’s Disease Animal Models: What Lessons Can Be Learned for Research on Neuroacanthocytosis Syndromes? -- Motor Deficits as Biomarkers in Huntington’s Disease: Perspectives for Neuroacanthocytosis Syndromes -- Treatment -- Treatment Options in Huntington’s Disease -- Is Surgical Treatment an Option for Chorea-Acanthocytosis? -- The Potential for Gene Therapy of Neurodegenerative Disorders -- Summary -- Research Agenda in Neuroacanthocytosis.
520			_aNeuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
590			_aPara consulta fuera de la UANL se requiere clave de acceso remoto.
710	2		_aSpringerLink (Servicio en línea) _9299170
776	0	8	_iEdición impresa: _z9781402028977
856	4	0	_uhttp://remoto.dgb.uanl.mx/login?url=http://dx.doi.org/10.1007/1-4020-2898-9 _zConectar a Springer E-Books (Para consulta externa se requiere previa autentificación en Biblioteca Digital UANL)
942			_c14
999			_c281564 _d281564