Michaela Auer‐Grumbach

9.0k citations

78 papers · 4.1k indexed · 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
Neurology 24
- Neurological diseases and metabolism 24
- Botulinum Toxin and Related Neurological Disorders 9

Co-authors: Vincent Timmerman Peter De Jonghe Klaus Wagner Garth A. Nicholson Jennifer L. Dawkins Sonal Brahmbhatt Hans‐Peter Hartung D J Hulme
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

Hit Papers

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

Peers

Countries citing papers authored by Michaela Auer‐Grumbach

Since Specialization

Citations

This map shows the geographic impact of Michaela Auer‐Grumbach's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Michaela Auer‐Grumbach with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Michaela Auer‐Grumbach more than expected).

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-authorship network

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

#	Work
1	His108Arg Transthyretin Amyloidosis—Shedding Light on a Distinctively Malignant Variant Journal of Clinical Medicine ·D. B. Syrek, 余立林, Christina Kronberger, Woon Sun Hong, René Rettl, 文湧井, Peter Zeinhofer, S. Y. Zhang, Michaela Auer‐Grumbach, Christian Hengstenberg, Roza Badr Eslam, Johannes Kästner, Jutta Bergler‐Klein, Andreas A. Kammerlander, Franz Duca	2024	0
2	Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging Journal of Personalized Medicine ·Ayyoub Meherchi, Andreas A. Kammerlander, Franz Duca, Christian Nitsche, Matthias Koschutnik, Carolina Donà, Theresa-Marie Dachs, René Rettl, Mustapha Benamer, Lore Schrutka, D. B. Syrek, Johannes Kästner, Hermine Agis, Renate Kain, Michaela Auer‐Grumbach, Matthias Samwald, Christian Hengstenberg, Georg Dorffner, Julia Mascherbauer, Diana Bonderman	2021	21
3	Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease Acta Neuropathologica Communications ·Thomas Geuens, Vicky De Winter, Nicholas Rajan, Tilmann Achsel, Ligia Mateiu, Leonardo Almeida‐Souza, Bob Asselbergh, Delphine Bouhy, Michaela Auer‐Grumbach, Claudia Bagni, Vincent Timmerman	2017	22
4	Extended phenotypic spectrum of KIF5A mutations UCL Discovery (University College London) ·孙岭, Laura M. Sly, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, David C. Hughes, Halvorson Rd, Pierre J. Moton, Christos Proukakis, Shintaro Sugimoto, Michaela Auer‐Grumbach, Stephan Züchner, 駿弥藤井, Mary M. Reilly, Henry Houlden	2014	3
5	The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features European Journal of Neurology ·Lea Leonardis, Michaela Auer‐Grumbach, Lea Papić, Janez Zidar	2012	11
6	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
7	Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I Human Mutation ·Annelies Rotthier, Anke Penno, Bernd Rautenstrauß, Michaela Auer‐Grumbach, Georg M. Stettner, Bob Asselbergh, Petra Kordulová, Heinrich Sticht, Nicolas Lévy, Vincent Timmerman, Thorsten Hornemann, Katrien Janssens	2011	32
8	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, Philippe Frugere, 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, Е.Ю. Медведев, Slave Trajanoski, Thomas R. Pieber, Andreas Janecke, Craig Blackstone, Michaela Auer‐Grumbach	2010	95
9	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, María del Pilar Ibarra-Reyes, 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
10	Molecular genetics of hereditary sensory neuropathies NeuroMolecular Medicine ·Michaela Auer‐Grumbach, Prof. Amarjeet Kaur Kanika Bhambri Bajaj, Piet Auer‐Grumbach, Thomas R. Pieber	2006	35
11	Recent advances in hereditary sensory and autonomic neuropathies Current Opinion in Neurology ·Kristien Verhoeven, Vincent Timmerman, Prof. Amarjeet Kaur Kanika Bhambri Bajaj, Thomas R. Pieber, Peter De Jonghe, Michaela Auer‐Grumbach	2006	43
12	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, Zhengrong Liao, Jane Paulino Pereira, Hans‐Peter Hartung, Klaus Wagner, Christian Windpassinger, (unknown)	2005	83
13	Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene Human Molecular Genetics ·Ming‐Jen Lee, Dennis A. Stephenson, Michael J. Groves, M G Sweeney, Ilona Sigrist, Shaun P Martin, Henry Houlden, Mustafa A. Salih, Vincent Timmerman, Peter De Jonghe, Michaela Auer‐Grumbach, Emilio Di Maria, Francesco Scaravilli, Nicholas Wood, Mary M. Reilly	2003	43
14	Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes Human Genetics ·Christian Windpassinger, Klaus Wagner, Erwin Petek, Renate Fischer, Michaela Auer‐Grumbach	2003	31
15	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
16	Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene Human Mutation ·Christos Proukakis, Michaela Auer‐Grumbach, Klaus Wagner, Yinyi Long, Evan Reid, M A Patton, Thomas T. Warner, Andrew H. Crosby	2003	25
17	Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy Neuromuscular Disorders ·Jennifer L. Dawkins, Sonal Brahmbhatt, Michaela Auer‐Grumbach, Klaus Wagner, Hans-Peter Hartung, Kristien Verhoeven, Vincent Timmerman, Peter De Jonghe, Marina Kennerson, Éric Leguern, Garth A. Nicholson	2002	19
18	Hereditary Sensory Neuropathy Type I: Haplotype Analysis Shows Founders in Southern England and Europe The American Journal of Human Genetics ·Garth A. Nicholson, Jennifer L. Dawkins, Ian P. Blair, Michaela Auer‐Grumbach, Sonal Brahmbhatt, D J Hulme	2001	21
19	Clinical predominance of proximal upper limb weakness in CMT1A syndrome Muscle & Nerve ·Michaela Auer‐Grumbach, Klaus Wagner, Siegrid Strasser‐Fuchs, R Krapf, Franz Fazekas, Michael Millner, Hans-Peter Hartung	2000	13
20	Roussy–Lévy syndrome is a phenotypic variant of Charcot–Marie–Tooth syndrome IA associated with a duplication on chromosome 17p11.2 Journal of the Neurological Sciences ·Michaela Auer‐Grumbach, Siegrid Strasser‐Fuchs, Klaus Wagner, Siobhan Coughlan, Franz Fazekas	1998	21

About Michaela Auer‐Grumbach

Michaela Auer‐Grumbach is a scholar working on Cellular and Molecular Neuroscience, Neurology, Cell Biology, Neurology and Genetics, 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), Cellular transport and secretion (17 papers), Genetic Neurodegenerative Diseases (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, Jennifer L. Dawkins, Sonal Brahmbhatt, 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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