M
Michaela Auer-Grumbach
Researcher at Medical University of Vienna
Publications - 25
Citations - 947
Michaela Auer-Grumbach is an academic researcher from Medical University of Vienna. The author has contributed to research in topics: Hereditary spastic paraplegia & Mutation. The author has an hindex of 12, co-authored 25 publications receiving 732 citations. Previous affiliations of Michaela Auer-Grumbach include Ludwig Maximilian University of Munich.
Papers
More filters
Journal ArticleDOI
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates,Emily C. Oates,Alexander M. Rossor,Majid Hafezparast,Michael A. Gonzalez,Fiorella Speziani,Daniel G. MacArthur,Daniel G. MacArthur,Monkol Lek,Monkol Lek,E. Cottenie,Mariacristina Scoto,A. Reghan Foley,Matthew E. Hurles,Henry Houlden,Linda Greensmith,Michaela Auer-Grumbach,Thomas R. Pieber,Tim M. Strom,Rebecca Schüle,David N. Herrmann,Janet E. Sowden,Gyula Acsadi,Manoj P. Menezes,Manoj P. Menezes,Nigel F. Clarke,Nigel F. Clarke,Stephan Züchner,Francesco Muntoni,Kathryn N. North,Kathryn N. North,Kathryn N. North,Mary M. Reilly +32 more
TL;DR: Findings provide insight into the mechanism underlying both the static and the slowly progressive clinical features and the motor neuron pathology that characterize BICD2-associated diseases, and underscore the importance of the dynein-dynactin transport pathway in the development and survival of both lower and upper motor neurons.
Journal ArticleDOI
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
Christian Beetz,Anders O H Nygren,J. Schickel,Michaela Auer-Grumbach,Katrin Bürk,G. Heide,Jan Kassubek,Sven Klimpe,Thomas Klopstock,Friedmar Kreuz,S. Otto,Rebecca Schüle,Ludger Schöls,Anne-Dorte Sperfeld,Otto W. Witte,Thomas Deufel +15 more
TL;DR: Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia.
Journal ArticleDOI
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Yo Tsen Liu,Matilde Laura,Joshua Hersheson,Alejandro Horga,Zane Jaunmuktane,Sebastian Brandner,Alan M. Pittman,Deborah Hughes,James M. Polke,Mary G. Sweeney,Christos Proukakis,John C. Janssen,Michaela Auer-Grumbach,Stephan Züchner,Kevin G. Shields,Mary M. Reilly,Henry Houlden +16 more
TL;DR: It is confirmed that KIF5A mutations can cause variable phenotypes ranging from HSP to CMT2, and the identification of mutations in C MT2 broadens the phenotypic spectrum and underlines the importance of KIF7A mutations, which involve degeneration of both the central and peripheral nervous systems and should be tested in HSP and CMT 2.
Journal ArticleDOI
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese,Andrea Cortese,Andrea Cortese,Yi Zhu,Adriana P. Rebelo,Sara Negri,Steve Courel,Lisa Abreu,Chelsea Bacon,Yunhong Bai,Dana M. Bis-Brewer,Enrico Bugiardini,Elena Buglo,Matt C. Danzi,Shawna M. E. Feely,Alkyoni Athanasiou-Fragkouli,Nourelhoda A Haridy,Nourelhoda A Haridy,Rosario Isasi,Alaa Khan,Matilde Laura,Stefania Magri,Menelaos Pipis,Chiara Pisciotta,Eric Powell,Alexander M. Rossor,Paola Saveri,Janet E. Sowden,Stefano Tozza,Jana Vandrovcova,Julia E. Dallman,Elena Grignani,Enrico Marchioni,Steven S. Scherer,Beisha Tang,Zhiqiang Lin,Abdullah Al-Ajmi,Rebecca Schüle,Matthis Synofzik,Thierry Maisonobe,Tanya Stojkovic,Michaela Auer-Grumbach,Mohamed A. Abdelhamed,Sherifa A. Hamed,Ruxu Zhang,Fiore Manganelli,Lucio Santoro,Franco Taroni,Davide Pareyson,Henry Houlden,David N. Herrmann,Mary M. Reilly,Michael E. Shy,R. Grace Zhai,Stephan Züchner +54 more
TL;DR: Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors and may contribute to a better understanding of the pathophysiology of diabetes.
Journal ArticleDOI
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
Magdalena Zimoń,Jonathan Baets,Gian Maria Fabrizi,E. Jaakkola,Dagmara Kabzińska,J. Pilch,Alice B. Schindler,David R. Cornblath,Kenneth H. Fischbeck,Michaela Auer-Grumbach,Christian Guelly,Nina Huber,E. De Vriendt,Vincent Timmerman,Ueli Suter,Irena Hausmanowa-Petrusewicz,Axel Niemann,Andrzej Kochański,P. De Jonghe,Albena Jordanova +19 more
TL;DR: It is shown that patients with dominant GDAP1 mutations may display clear axonal CMT, but may also have only minimal clinical and electrophysiologic abnormalities, and cell-based functional assays can be reliably used to test the pathogenicity of unknown variants.