H
Hans-Henrik M. Dahl
Researcher at University of Melbourne
Publications - 68
Citations - 2902
Hans-Henrik M. Dahl is an academic researcher from University of Melbourne. The author has contributed to research in topics: Hearing loss & Gene. The author has an hindex of 32, co-authored 68 publications receiving 2771 citations. Previous affiliations of Hans-Henrik M. Dahl include Cooperative Research Centre & Royal Children's Hospital.
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Journal ArticleDOI
Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes
TL;DR: Oocytes from a woman with heteroplasmic expression of the mtDNA nt 8993 (T-->G) mutation are studied, and it is found that subsequent mature oocytes may contain predominantly wild-type or mutant mitochondrial genomes.
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Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.
TL;DR: A range of current reproductive options that may be considered for prevention of transmission of mtDNA mutations, including the use of donor oocytes, prenatal diagnosis, and preimplantation genetic diagnosis, plus possible future options such as nuclear transfer and cytoplasmic transfer are described.
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Dalia Kasperavičiūtė,Claudia B. Catarino,Claudia B. Catarino,Mar Matarin,Costin Leu,Jan Novy,Jan Novy,Anna Tostevin,Anna Tostevin,Bárbara Leal,Ellen V. S. Hessel,Kerstin Hallmann,Michael S. Hildebrand,Hans-Henrik M. Dahl,Mina Ryten,Daniah Trabzuni,Adaikalavan Ramasamy,Adaikalavan Ramasamy,Saud Alhusaini,Saud Alhusaini,Colin P. Doherty,Thomas Dorn,Jörg Hansen,Günter Krämer,Bernhard J. Steinhoff,Dominik Zumsteg,Susan Duncan,Reetta Kälviäinen,Kai Eriksson,Anne-Mari Kantanen,Massimo Pandolfo,Ursula Gruber-Sedlmayr,Kurt Schlachter,Eva M. Reinthaler,Elisabeth Stögmann,Fritz Zimprich,Emilie Théâtre,Colin Smith,Terence J. O'Brien,Terence J. O'Brien,K. Meng Tan,K. Meng Tan,Slavé Petrovski,Slavé Petrovski,Angela Robbiano,Roberta Paravidino,Federico Zara,Pasquale Striano,Michael R. Sperling,Russell J. Buono,Hakon Hakonarson,João Chaves,Paulo Costa,Paulo Costa,Berta Martins da Silva,António Martins da Silva,Pierre N. E. De Graan,Bobby P. C. Koeleman,Albert J. Becker,Susanne Schoch,Marec von Lehe,Philipp S. Reif,Felix Rosenow,Felicitas Becker,Yvonne G. Weber,Holger Lerche,Karl Rössler,Michael Buchfelder,Hajo M. Hamer,Katja Kobow,Roland Coras,Ingmar Blümcke,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Samuel F. Berkovic,Michael E. Weale,Norman Delanty,Norman Delanty,Chantal Depondt,Gianpiero L. Cavalleri,Wolfram S. Kunz,Sanjay M. Sisodiya,Sanjay M. Sisodiya +83 more
TL;DR: Genetic analysis and meta-analysis suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febs.
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X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex
TL;DR: The functional gene locus for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been localized to the p22.1-22.2 region of the X chromosome by in situ hybridization and analysis of somatic cell hybrids with various human X-chromosome rearrangements.
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Reduced Collagen VI Causes Bethlem Myopathy: A Heterozygous COL6A1 Nonsense Mutation Results in mRNA Decay and Functional Haploinsufficiency
Shireen R. Lamandé,John F. Bateman,Wendy M. Hutchison,R. J McKinlay Gardner,Simon Bower,Edward Byrne,Hans-Henrik M. Dahl +6 more
TL;DR: This is the first example of a muscular dystrophy caused by haploinsufficiency of a structural protein or member of the dystrophin-glycoprotein complex, and identifies collagen VI as a critical contributor to cell-matrix adhesion in skeletal muscle.