Melanie Bahlo
AuthID: R-00G-EX9
1
TITLE: Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study Full Text
AUTHORS: Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H.; Toennies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zuehlke, Christine; Depienne, Christel; Trinh, Joanne; Ludolph, Albert C.; Klein, Christine; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS
AUTHORS: Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H.; Toennies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zuehlke, Christine; Depienne, Christel; Trinh, Joanne; Ludolph, Albert C.; Klein, Christine; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
AUTHORS: Jiang, Simon H.; Mercan, Sevcan; Papa, Ilenia; Moldovan, Max; Walters, Giles D.; Koina, Mark; Fadia, Mitali; Stanley, Maurice; Lea Henry, Tom; Cook, Amelia; Ellyard, Julia; McMorran, Brendan; Sundaram, Madhivanan; Thomson, Russell; Canete, Pablo F.; Hoy, Wendy; Hutton, Holly; Srivastava, Monika; McKeon, Kathryn; de la Rua Figueroa, Inigo; ...More
PUBLISHED: 2021, SOURCE: CELL REPORTS MEDICINE, VOLUME: 2, ISSUE: 12
AUTHORS: Jiang, Simon H.; Mercan, Sevcan; Papa, Ilenia; Moldovan, Max; Walters, Giles D.; Koina, Mark; Fadia, Mitali; Stanley, Maurice; Lea Henry, Tom; Cook, Amelia; Ellyard, Julia; McMorran, Brendan; Sundaram, Madhivanan; Thomson, Russell; Canete, Pablo F.; Hoy, Wendy; Hutton, Holly; Srivastava, Monika; McKeon, Kathryn; de la Rua Figueroa, Inigo; ...More
PUBLISHED: 2021, SOURCE: CELL REPORTS MEDICINE, VOLUME: 2, ISSUE: 12
INDEXED IN: WOS
WOS3
TITLE: Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
AUTHORS: Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux Dion; Patrick Cossette; Ivana Jedlickova; Anna Pristoupilova; Sara E Mole;
PUBLISHED: 2016, SOURCE: NEUROLOGY, VOLUME: 87, ISSUE: 6
AUTHORS: Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux Dion; Patrick Cossette; Ivana Jedlickova; Anna Pristoupilova; Sara E Mole;
PUBLISHED: 2016, SOURCE: NEUROLOGY, VOLUME: 87, ISSUE: 6
4
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
5
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
