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.
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Journal ArticleDOI
Hereditary Neuropathies: Update 2017.
TL;DR: This review presents current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.
Journal ArticleDOI
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M. Santorelli,Ahmed Alfares,Changlian Zhu,Changlian Zhu,Changlian Zhu,Anna Uhrova Meszarosova,Elham Alehabib,Somayeh Bakhtiari,Andreas R. Janecke,Maria Gabriela Otero,Jin Yun Helen Chen,James T Peterson,Tim M. Strom,Peter De Jonghe,Tine Deconinck,Willem De Ridder,Jonathan De Winter,Rossella Pasquariello,Ivana Ricca,Majid Alfadhel,Bart P.C. van de Warrenburg,Ruben Portier,Carsten Bergmann,Saghar Ghasemi Firouzabadi,Sheng Chih Jin,Kaya Bilguvar,Sherifa A. Hamed,Mohammed Anter Abdelhameed,Nourelhoda A Haridy,Nourelhoda A Haridy,Shazia Maqbool,Fatima Rahman,Najwa Anwar,Jenny Carmichael,Alistair T. Pagnamenta,Nicholas W. Wood,Nicholas W. Wood,Frederic Tran Mau-Them,Tobias B. Haack,Maja Di Rocco,Isabella Ceccherini,Michele Iacomino,Federico Zara,Federico Zara,Vincenzo Salpietro,Vincenzo Salpietro,Marcello Scala,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laetitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara M. Skraban,Cara M. Skraban,Amy Goldstein,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M. Graham,Richard A. Lewis,Francisca Millan,Özgür Duman,Nihal Olgaç Dündar,Gökhan Uyanik,Ludger Schöls,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana P. Rebelo,Filipa Bouçanova,Jean-Jacques Médard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S. Alkuraya,Hanan E. Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C. Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Matthis Synofzik,Matthis Synofzik,Rebecca Schüle,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek +118 more
TL;DR: In this paper, the authors report 25 families containing 34 individuals with neurological disease associated with biallelic 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) variants.
Journal ArticleDOI
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Michaela Auer-Grumbach,René Rettl,Klemens Ablasser,Hermine Agis,Christian Beetz,Franz Duca,Martin Gattermeier,Franz Glaser,M Hacker,Renate Kain,Birgit Kaufmann,Gabor G. Kovacs,Gabor G. Kovacs,Christian Lampl,Neira Ljevakovic,Jutta Nagele,Gerhard Pölzl,Stefan Quasthoff,Bernadette Raimann,Helmut Rauschka,Christian Reiter,Volha Skrahina,Othmar Schuhfried,Raute Sunder-Plassmann,Nicolas Verheyen,Julia Wanschitz,Thomas Weber,Reinhard Windhager,Raphael Wurm,Friedrich Zimprich,Wolfgang Löscher,Diana Bonderman +31 more
TL;DR: The study underlined the relevance of hATTR in the pathogenesis of amyloid-driven cardiomyopathy and axonal polyneuropathy and indicated considerable genetic heterogeneity of this disease in the Austrian population.
Journal ArticleDOI
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
Shelisa Tey,Nortina Shahrizaila,Alexander P. Drew,Sarimah Samulong,Khean Jin Goh,Esra Battaloglu,Derek Atkinson,Yesim Parman,Albena Jordanova,Ki Wha Chung,Byung-Ok Choi,Yi-Chung Li,Michaela Auer-Grumbach,Garth A. Nicholson,Garth A. Nicholson,Marina L. Kennerson,Marina L. Kennerson,Azlina Ahmad-Annuar +17 more
TL;DR: Analysis of AHNAK2 expression in the AR-CMT patient fibroblasts showed significantly reduced mRNA and protein levels, which indicates that altered expression of mutant AHNAk2 may disrupt the AH NAK2-PRX interaction in which one of its known functions is to regulate myelination.
Journal ArticleDOI
Transthyretin-Amyloidose (ATTR-Amyloidose): Empfehlungen zum Management in Deutschland und Österreich
Ernst Hund,Arnt V. Kristen,Michaela Auer-Grumbach,Christian Geber,Frank Birklein,Wilhelm Schulte-Mattler,Claudia Sommer,Hartmut Schmidt,Christoph Röcken +8 more
TL;DR: Die vorliegende Arbeit deutschsprachiger Experten gibt Empfehlungen zu Diagnostik, Management and Therapie of ATTR-Amyloidosen and soll helfen, diese erbliche, heute aber gut behandelbare, Erkrankung einem weiteren Kreis of Ärzten bekannt zu machen.