Polyglutamine disorders. (2018)

• Record Type: Book
• Further Information: Note: Clévio Nóbrega, Luís Pereira de Almeida, editors.
• Editors: Nóbrega, Clévio; Pereira de Almeida, Luís
• Contents: Clinical features of Huntington's disease / Rhia Ghosh, Sarah J. Tabrizi -- Genetic rodent models of Huntington disease / J. Stricker-Shaver, A. Novati, L. Yu-Taeger, H.P. Nguyen -- Mitochondrial dysfunction in Huntington's disease / Catarina Carmo, Luana Naia, Carla Lopes, A. Cristina Rego -- RNA related pathology in Huntington's disease / Andreas Neueder, Gillian P. Bates -- X-linked spinal and bulbar muscular atrophy: from clinical genetic features and molecular pathology to mechanisms underlying disease toxicity / Constanza J. Cortes, Albert R. La Spada -- spinocerebellar ataxia type 1: molecular mechanisms of neurodegeneration and preclinical studies / Judit M. Pérez Ortiz, Harry T. Orr -- Spinocerebellar ataxia type 6: molecular mechanisms and calcium channel genetics / Xiaofei Du, Christopher Manuel Gomez -- Spinocerebellar ataxia type 2 / Daniel R. Scoles, Stefan M. Pulst -- Molecular mechanisms and therapeutic strategies in spinocerebellar ataxia type 7 / Alice Karam, Yvon Trottier -- Spinocerebellar ataxia type 17 (SCA17) / Yasuko Toyoshima, Hitoshi Takahashi -- The neuropathology of spinocerebellar ataxia type 3/Machado-Joseph disease / Arnulf H. Koeppen -- Origins and spread of Machado-Joseph disease ancestral mutations events / Sandra Martins, Jorge Sequeiros -- Clinical features of Machado-Joseph disease / Nuno Mendonça, Marcondes C. França Jr., António Freire Gonçalves, Cristina Januário -- Polyglutamine-independent features in ataxin-3 aggregation and pathogenesis of Machado-Joseph disease / Ana Luisa Carvalho, Alexandra Silva, Sandra Macedo-Ribeiro -- Animal models of Machado-Joseph disease / Jana Schmidt, Thorsten Schmidt -- Towards the identification of molecular biomarkers of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) / Manuela Lima, Mafalda Raposo -- Planning future clinical trials for Machado-Joseph disease / Jonas Alex Morales Saute, Laura Bannach Jardim -- Molecular mechanisms and cellular pathways implicated in Machado-Joseph disease pathogenesis / Clévio Nóbrega, Ana Teresa Simões, Joana Duarte-Neves, Sónia Duarte, Ana Vasconcelos-Ferreira, Janete Cunha-Santos [and others] -- Pharmacological therapies for Machado-Joseph disease / Sara Duarte-Silva, Patrícia Maciel -- Gene therapies for polyglutamine diseases / Carlos A. Matos, Vítor Carmona, Udaya-Geetha Vijayakumar, Sara Lopes, Patrícia Albuquerque, Mariana Conceição [and others] -- Stem cell-based therapies for polyglutamine diseases / Liliana S. Mendonça, Isabel Onofre, Catarina Oliveira Miranda, Rita Perfeito, Clévio Nóbrega, Luís Pereira de Almeida -- Erratum to: Spinocerebellar ataxia type 6: molecular mechanisms and calcium channel genetics / Xiaofei Du, Christopher Manuel Gomez.
• Publisher Details: Cham, Switzerland : Springer
• Publication Date: 2018
• Extent: 1 online resource (viii, 469 pages), illustrations (some color)
• Subjects: 616.8; Nervous system -- Diseases -- Genetic aspects; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Nervous system -- Diseases -- Genetic aspects; Gene Function; Heredodegenerative Disorders, Nervous System -- pathology; Heredodegenerative Disorders, Nervous System -- therapy; Myoclonic Epilepsies, Progressive; Trinucleotide Repeats; Electronic books
• Languages: English
• ISBNs: 9783319717791; 3319717790
• Related ISBNs: 9783319717784; 3319717782
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from PDF title page (SpringerLink, viewed February 13, 2018).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.