Resultados de procura - R. E. Madrid
- Mostrando 1 - 3 Resultados de 3
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1
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis por Rebecca Schüle, Teepu Siddique, Han‐Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, R. E. Madrid, Nailah Siddique, Lüdger Schöls, Ingemar Björkhem
Publicado 2009Artigo -
2
Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration por Maria K. Tsaousidou, Karim Ouahchi, Thomas T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, R. E. Madrid, Heema Patel, Fayçal Hentati, Michael A. Patton, Afif Hentati, P. Lamont, Teepu Siddique, Andrew H. Crosby
Publicado 2008Artigo -
3
Genetic spectrum of hereditary neuropathies with onset in the first year of life por Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe
Publicado 2011Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Medicine
Age of onset
Audiology
Auditory neuropathy
Biochemistry
CYP27A1
Cerebrospinal fluid
Chemistry
Cholestanol
Cholesterol
Compound heterozygosity
Disease
Endocrinology
Gene duplication
Genetic heterogeneity
Genetic testing
Genetically modified mouse
Hearing loss
Hyporeflexia
Hypotonia
Internal medicine
Motor neuron
Mutation
Neuroscience
Oxysterol
Pathology
Pediatrics