Michaela Auer‐Grumbach

9.0k citations

78 papers · 4.1k · 1 hit paper · h-index 35

Impact in

Neurology top 0.5%
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
Cellular and Molecular Neuroscience top 0.5%
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases

Papers in

Cellular and Molecular Neuroscience 55
- Hereditary Neurological Disorders 55
- Genetic Neurodegenerative Diseases 17
Cell Biology 35
- Cellular transport and secretion 17
- Endoplasmic Reticulum Stress and Disease 14
- Cellular Mechanics and Interactions 7

Co-authors: Vincent Timmerman (24 shared papers)Peter De Jonghe (17 shared papers)Klaus Wagner (13 shared papers)Garth A. Nicholson (9 shared papers)Sonal Brahmbhatt (3 shared papers)Jennifer L. Dawkins (3 shared papers)Hans‐Peter Hartung (7 shared papers)D J Hulme (2 shared papers)
Journals: Neurology (7 papers)The American Journal of Human Genetics (6 papers)Journal of Neurology (6 papers)Neurogenetics (4 papers)Brain (4 papers)
Partner nations: Austria Germany Belgium

In The Last Decade

Michaela Auer‐Grumbach

76 papers receiving 4.1k citations

Michaela Auer‐Grumbach's Hit Papers

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) 2004 · 602 citations

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Countries citing papers authored by Michaela Auer‐Grumbach

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Citations

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Fields of papers citing papers by Michaela Auer‐Grumbach

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Michaela Auer‐Grumbach. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Michaela Auer‐Grumbach. The network helps show where Michaela Auer‐Grumbach may publish in the future.

Co-authors

The 25 scholars most cited alongside Michaela Auer‐Grumbach, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Michaela Auer‐Grumbach Line = papers co-authored together Michaela Auer‐Grumbach links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 78 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) The American Journal of Human Genetics ·Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer‐Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance Hit paper breakdown →	2004	602
2	Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy The American Journal of Human Genetics ·Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer‐Grumbach, Jennifer M. Kwon, David Fitzpatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans‐Peter Hartung, Vincent Timmerman	2003	351
3	Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I Nature Genetics ·Jennifer L. Dawkins, D J Hulme, Sonal Brahmbhatt, Michaela Auer‐Grumbach, Garth A. Nicholson	2001	306
4	Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome Nature Genetics ·Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A. Reed, Ines Dierick, Nathalie Verpoorten, Thomas T. Warner, Christos Proukakis, Peter Van den Bergh, Christine Verellen, Lionel Van Maldergem, Luciano Merlini, Peter De Jonghe, Vincent Timmerman, Andrew H. Crosby, Klaus Wagner	2004	279
5	Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance Journal of the Neurological Sciences ·Josef Finsterer, Wolfgang N. Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer‐Grumbach, Giovanni Stévanin	2012	185
6	Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I The American Journal of Human Genetics ·Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman	2010	134
7	Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation Brain ·Annelies Rotthier, Jonathan Baets, Els De Vriendt, Alice K. Jacobs, Michaela Auer‐Grumbach, Nicolas Lévy, Nathalie Bonello‐Palot, (unknown), Joachim Weis, A. Nascimento, Mariëlle E.M. Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman	2009	116
8	High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia Neurology ·Christian Beetz, Anders O.H. Nygren, Jörg Schickel, Michaela Auer‐Grumbach, Kelly Burk, G. Heide, Jan Kassubek, Sven Klimpe, Thomas Klopstock, Friedmar R. Kreuz, Otto W. Witte, Rebecca Schüle, Lüdger Schöls, Anne-Dorte Sperfeld, Thomas Deufel	2006	105
9	Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I The American Journal of Human Genetics ·Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan C. Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas Janecke, Craig Blackstone, Michaela Auer‐Grumbach	2010	95
10	Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation Annals of Neurology ·Michaela Auer‐Grumbach, Beate Schlotter‐Weigel, Hanns Lochmüller, Gertrud Strobl‐Wildemann, Piet Auer‐Grumbach, Renate Fischer, H. Offenbacher, Ernst B. Zwick, Tanja Robl, Gerald Hartl, Hans‐Peter Hartung, Klaus Wagner, Christian Windpassinger, (unknown)	2005	83
11	Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C American Journal of Medical Genetics Part A ·Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, Kevin Colclough, Nguyễn Thùy Dương, Jane Fenton‐May, Andrew T. Hattersley, Judith A. Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine R. Owen, Mark S. Walker, Manfred Wehnert, Sian Ellard	2008	80
12	Extended phenotypic spectrum of KIF5A mutations Neurology ·Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden	2014	80
13	Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V The American Journal of Human Genetics ·Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer‐Grumbach	2012	69
14	Autosomal Dominant Inherited Neuropathies With Prominent Sensory Loss and Mutilations Archives of Neurology ·Michaela Auer‐Grumbach, Peter De Jonghe, Kristien Verhoeven, Vincent Timmerman, Klaus Wagner, Hans‐Peter Hartung, Garth A. Nicholson	2003	62
15	Dominant GDAP1 mutations cause predominantly mild CMT phenotypes Neurology ·M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova	2011	61
16	Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain ·Peter De Jonghe, Michaela Auer‐Grumbach, Joy Irobi, Klaus Wagner, Barbara Plecko, Marina Kennerson, Danqing Zhu, Els De Vriendt, Veerle Van Gerwen, Garth A. Nicholson, Hans‐Peter Hartung, Vincent Timmerman	2002	57
17	Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies Autophagy ·Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean‐Pierre Timmermans, Michaela Auer‐Grumbach, Manisha Juneja, Vincent Timmerman	2019	56
18	Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome Journal of the Neurological Sciences ·Barbara Rohkamm, Mary M. Reilly, Hanns Lochmüller, Beate Schlotter‐Weigel, Nina Barišić, Lüdger Schöls, Garth A. Nicholson, Davide Pareyson, Matilde Laurá, Andreas Janecke, Gábriel Miltenberger-Miltényi, Elisabeth John, Carina Fischer, Franz Grill, William Wakeling, Mary Dabney Davis, Thomas R. Pieber, Michaela Auer‐Grumbach	2007	54
19	Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges Journal of Neurology ·Maria Schabhüttl, Thomas Wieland, Jan Senderek, Jonathan Baets, Vincent Timmerman, Peter De Jonghe, Mary M. Reilly, Karl Stieglbauer, Eva Laich, Reinhard Windhager, Wolfgang Erwa, Slave Trajanoski, Tim M. Strom, Michaela Auer‐Grumbach	2014	51
20	Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 Journal of Neurology ·Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach	2015	49

About Michaela Auer‐Grumbach

Michaela Auer‐Grumbach is a scholar working on Cellular and Molecular Neuroscience, Cell Biology, Molecular Biology, Neurology and Neurology, having authored 78 papers that have together received 4.1k indexed citations. Recurring topics across this work include Hereditary Neurological Disorders (55 papers), Neurological diseases and metabolism (24 papers), Genetic Neurodegenerative Diseases (17 papers), Cellular transport and secretion (17 papers), Endoplasmic Reticulum Stress and Disease (14 papers), Botulinum Toxin and Related Neurological Disorders (9 papers), Cellular Mechanics and Interactions (7 papers) and Neurogenetic and Muscular Disorders Research (6 papers). The work is most often cited by research in Neurology (1.1k citations), Cellular and Molecular Neuroscience (2.1k citations), Cell Biology (1.2k citations), Genetics (752 citations) and Neurology (924 citations). Michaela Auer‐Grumbach has collaborated with scholars based in Austria, Germany and Belgium. Frequent co-authors include Vincent Timmerman, Peter De Jonghe, Klaus Wagner, Garth A. Nicholson, Sonal Brahmbhatt, Jennifer L. Dawkins, Hans‐Peter Hartung, D J Hulme, Wolfgang N. Löscher and Joy Irobi. Their work appears in journals such as Neurology, The American Journal of Human Genetics, Journal of Neurology, Neurogenetics and Brain.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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