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2009, ISBN 9780750654104, xiii, 330
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand... 
Genetics, Medical | genetics | Neurogenetics | Nervous system | Genetic aspects | Nervous System Diseases | Diseases | Biology, life sciences
Book
Brain, ISSN 0006-8950, 10/2015, Volume 138, p. 2847
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal... 
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
Journal Article
Brain: a journal of neurology, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2847 - 2858
Journal Article
Journal Article
Journal Article
2009, ISBN 9780750654104
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand... 
Genetics, Medical | genetics | Neurogenetics | Nervous system | Genetic aspects | Nervous System Diseases | Diseases
Web Resource
Human Genetics, ISSN 0340-6717, 3/2005, Volume 116, Issue 4, pp. 267 - 271
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness,... 
LifeSciences | REPEATS | GENETICS & HEREDITY | Recombination, Genetic | Base Sequence | Humans | Poly(A)-Binding Protein II - genetics | Polymerase Chain Reaction | Heterozygote | Muscular Dystrophy, Oculopharyngeal - genetics | Mutation | DNA Primers
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 1995, Volume 1271, Issue 1, pp. 135 - 140
This study examines the relationship of genotype to phenotype in 14 unselected patients who were found to harbour the A3243G transition in the mitochondrial... 
Mitochondrion | MELAS phenotype | mtDNA disease | POINT MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MTDNA DISEASE | LEIGHS SYNDROME | TRANSCRIPTION TERMINATION FACTOR | CLINICAL-FEATURES | PROTEIN-SYNTHESIS | MITOCHONDRION | MELAS MUTATION | BIOPHYSICS | MELAS PHENOTYPE | TRANSFER RNALEU(UUR) GENE | STROKE-LIKE EPISODES | LACTIC-ACIDOSIS | HEREDITARY OPTIC NEUROPATHY
Journal Article
01/2009, First Edition, ISBN 9780750654104
Book Chapter
01/2009, First Edition, ISBN 9780750654104
Book Chapter
01/2009, First Edition, ISBN 9780750654104
Book Chapter
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