Michaela Auer-Grumbach

Michaela Auer-Grumbach

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Michaela Auer-Grumbach

Michaela Auer-Grumbach

Publications by authors named "Michaela Auer-Grumbach"

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Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

Mol Cell Probes 2018 10 21;41:61-63. Epub 2018 Aug 21.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Am Klinikum 1, 07747, Jena, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08908508183018
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http://dx.doi.org/10.1016/j.mcp.2018.08.005DOI Listing
October 2018

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Mol Neurobiol 2017 11 29;54(9):7212-7223. Epub 2016 Oct 29.

Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

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http://dx.doi.org/10.1007/s12035-016-0242-3DOI Listing
November 2017

Hereditary Neuropathies: Update 2017.

Neuropediatrics 2017 08 8;48(4):282-293. Epub 2017 Jun 8.

Friedrich-Baur-Institut, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1603518DOI Listing
August 2017

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Am J Med Genet B Neuropsychiatr Genet 2016 09 17;171(6):875-8. Epub 2016 May 17.

Department of Orthopaedics, Medical University Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/ajmg.b.32458DOI Listing
September 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Neurology 2014 Nov 1;83(19):1726-32. Epub 2014 Oct 1.

From the Department of Sleep Medicine and Neuromuscular Disorders (B.G., A.S., D.R., H.H., P.Y.), University of Muenster, Germany; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; Institute of Human Genetics (T.S.), Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg; Friedrich Baur Institute (M.Z., J.S.), Department of Neurology, Ludwig Maximilians University Munich; and Institute of Human Genetics (S.R.-S.), RWTH Aachen University, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000966DOI Listing
November 2014

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
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http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 2014

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Neurobiol Dis 2014 May 9;65:211-9. Epub 2014 Feb 9.

Molecular Genetics Department, VIB, University of Antwerp, B-2610 Antwerpen, Belgium; Neurogenetics Laboratory, Institute Born Bunge, University of Antwerp, B-2610 Antwerpen, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.01.021DOI Listing
May 2014

Hereditary sensory and autonomic neuropathies.

Handb Clin Neurol 2013 ;115:893-906

Department of Orthopaedics, Medical University Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52902-2.00050-3DOI Listing
April 2014

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

Pediatr Nephrol 2013 Feb 11;28(2):339-43. Epub 2012 Sep 11.

Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00467-012-2299-1DOI Listing
February 2013

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Anal Biochem 2012 Feb 9;421(2):799-801. Epub 2011 Dec 9.

Department of Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000326971100773
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http://dx.doi.org/10.1016/j.ab.2011.12.002DOI Listing
February 2012

Motor neuron, nerve, and neuromuscular junction disease.

Curr Opin Neurol 2011 Oct;24(5):469-74

Krankenanstalt Rudolfstiftung, Vienna, Austria.

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http://dx.doi.org/10.1097/WCO.0b013e32834a9448DOI Listing
October 2011

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Neurogenetics 2009 Apr 15;10(2):97-104. Epub 2008 Oct 15.

Sektion Klinische Neurogenetik, Hertie Institut für Klinische Hirnforschung, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-008-0158-9DOI Listing
April 2009

Hereditary sensory neuropathy type I.

Orphanet J Rare Dis 2008 Mar 18;3. Epub 2008 Mar 18.

Institute of Human Genetics, Graz, Austria.

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http://dx.doi.org/10.1186/1750-1172-3-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2311280PMC
March 2008

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Arch Neurol 2007 Jul;64(7):966-70

Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1001/archneur.64.7.966DOI Listing
July 2007

Molecular genetics of hereditary sensory neuropathies.

Neuromolecular Med 2006 ;8(1-2):147-58

Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstrasse 24, A-8010 Graz, Austria.

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http://dx.doi.org/10.1385/nmm:8:1-2:147DOI Listing
March 2007

Recent advances in hereditary sensory and autonomic neuropathies.

Curr Opin Neurol 2006 Oct;19(5):474-80

Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.

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http://dx.doi.org/10.1097/01.wco.0000245370.82317.f6DOI Listing
October 2006

Hereditary sensory neuropathies.

Drugs Today (Barc) 2004 May;40(5):385-94

Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria.

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http://dx.doi.org/10.1358/dot.2004.40.5.850487DOI Listing
May 2004

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Hum Genet 2003 Dec 16;114(1):99-109. Epub 2003 Sep 16.

Institute of Medical Biology and Human Genetics, Karl-Franzens University Graz, Harrachgasse 21/8, 8010 Graz, Austria.

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http://link.springer.com/10.1007/s00439-003-1021-6
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http://dx.doi.org/10.1007/s00439-003-1021-6DOI Listing
December 2003

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.

Arch Neurol 2003 Mar;60(3):329-34

Institute of Medical Biology and Human Genetics, Karl-Franzens University Graz, Harrachgasse 21/8, A-8010 Graz, Austria.

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http://dx.doi.org/10.1001/archneur.60.3.329DOI Listing
March 2003

Proximal Charcot-Marie-Tooth Syndrome with Duplication on Chromosome 17p11.2.

Ann N Y Acad Sci 1999 Oct;883(1):469-471

Department of Neurology, Karl-Franzens-University, Graz, AustriaInstitute of Medical Biology and Human Genetics, Karl-Franzens-University, Graz, Austria.

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http://dx.doi.org/10.1111/j.1749-6632.1999.tb08613.xDOI Listing
October 1999