H. H. M. Dahl
AuthID: R-00G-5FQ
1
TITLE: Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features Full Text
AUTHORS: Samuel F Berkovic; Karen L Oliver; Laura Canafoglia; Penina Krieger; John A Damiano; Michael S Hildebrand; Michela Morbin; Danya F Vears; Vito Sofia; Loretta Giuliano; Barbara Garavaglia; Alessandro Simonati; Filippo M Santorelli; Antonio Gambardella; Angelo Labate; Vincenzo Belcastro; Barbara Castellotti; Cigdem Ozkara; Adam Zeman; Julia Rankin; ...More
PUBLISHED: 2019, SOURCE: BRAIN, VOLUME: 142, ISSUE: 1
AUTHORS: Samuel F Berkovic; Karen L Oliver; Laura Canafoglia; Penina Krieger; John A Damiano; Michael S Hildebrand; Michela Morbin; Danya F Vears; Vito Sofia; Loretta Giuliano; Barbara Garavaglia; Alessandro Simonati; Filippo M Santorelli; Antonio Gambardella; Angelo Labate; Vincenzo Belcastro; Barbara Castellotti; Cigdem Ozkara; Adam Zeman; Julia Rankin; ...More
PUBLISHED: 2019, SOURCE: BRAIN, VOLUME: 142, ISSUE: 1
INDEXED IN: 
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WOS
Scopus WOS2
TITLE: Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
AUTHORS: Katherine R Smith; Hans Henrik M Dahl; Laura Canafoglia; Eva Andermann; John Damiano; Michela Morbin; Amalia C Bruni; Giorgio Giaccone; Patrick Cossette; Paul Saftig; Joachim Groetzinger; Michael Schwake; Frederick Andermann; John F Staropoli; Katherine B Sims; Sara E Mole; Silvana Franceschetti; Noreen A Alexander; Jonathan D Cooper; Harold A Chapman; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
AUTHORS: Katherine R Smith; Hans Henrik M Dahl; Laura Canafoglia; Eva Andermann; John Damiano; Michela Morbin; Amalia C Bruni; Giorgio Giaccone; Patrick Cossette; Paul Saftig; Joachim Groetzinger; Michael Schwake; Frederick Andermann; John F Staropoli; Katherine B Sims; Sara E Mole; Silvana Franceschetti; Noreen A Alexander; Jonathan D Cooper; Harold A Chapman; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
3
TITLE: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A Full Text
AUTHORS: Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Barbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Joerg Hansen; Guenter Kraemer; Bernhard J Steinhoff; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10
AUTHORS: Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Barbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Joerg Hansen; Guenter Kraemer; Bernhard J Steinhoff; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10
4
TITLE: Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
AUTHORS: Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen Lang Lin; Dennis W Dickson; Hans Henrik Dahl; Melanie Bahlo; Samuel F Berkovic;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 6
AUTHORS: Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen Lang Lin; Dennis W Dickson; Hans Henrik Dahl; Melanie Bahlo; Samuel F Berkovic;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 6
5
TITLE: GJB2 mutations and degree of hearing loss: A multicenter study
AUTHORS: Snoeckx, RL; Huygen, PLM; Feldmann, D; Marlin, S; Denoyelle, F; Waligora, J; Mueller Malesinska, M; Pollak, A; Ploski, R; Murgia, A; Orzan, E; Castorina, P; Ambrosetti, U; Nowakowska Szyrwinska, E; Bal, J; Wiszniewski, W; Janecke, AR; Nekahm Heis, D; Seeman, P; Bendova, O; ...More
PUBLISHED: 2005, SOURCE: American Journal of Human Genetics, VOLUME: 77, ISSUE: 6
AUTHORS: Snoeckx, RL; Huygen, PLM; Feldmann, D; Marlin, S; Denoyelle, F; Waligora, J; Mueller Malesinska, M; Pollak, A; Ploski, R; Murgia, A; Orzan, E; Castorina, P; Ambrosetti, U; Nowakowska Szyrwinska, E; Bal, J; Wiszniewski, W; Janecke, AR; Nekahm Heis, D; Seeman, P; Bendova, O; ...More
PUBLISHED: 2005, SOURCE: American Journal of Human Genetics, VOLUME: 77, ISSUE: 6
INDEXED IN: Scopus 
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