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1

Clinical predominance of proximal upper limb weakness in CMT1A syndrome

Michaela Auer-Grumbach, Klaus Wagner, Siegrid Strasser-Fuchs, Wolfgang N. Löscher, Franz Fazekas, Michael Millner, Hans-Peter Hartung

Journal:

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

2

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

Julia Rankin, Michaela Auer-Grumbach, Warwick Bagg, Kevin Colclough, Nguyen Thuy Duong, Jane Fenton-May, Andrew Hattersley, Judith Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

3

Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands

Wolfgang N. Löscher, Michaela Auer-Grumbach, Eugen Trinka, Gunther Ladurner, Hans-Peter Hartung

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

4

Hereditary sensory neuropathy type I

Michaela Auer-Grumbach

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

5

Multi-system neurological disease is common in patients with OPA1 mutations

Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Mil

Journal:

Year:

2010

Language:

english

File:

PDF, 679 KB

english, 2010

6

Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block

Heschl, S., Hallmann, B., Zilke, T., Gemes, G., Schoerghuber, M., Auer-Grumbach, M., Quehenberger, F., Lirk, P., Hogan, Q., Rigaud, M., Colvin, L.

Journal:

British Journal of Anaesthesia

Year:

2016

Language:

english

File:

PDF, 286 KB

english, 2016

7

Transthyretin-Amyloidose (ATTR-Amyloidose): Empfehlungen zum Management in Deutschland und Österreich

Hund, Ernst, Kristen, Arnt, Auer-Grumbach, Michaela, Geber, Christian, Birklein, Frank, Schulte-Mattler, Wilhelm, Sommer, Claudia, Schmidt, Hartmut, Röcken, Christoph

Journal:

Aktuelle Neurologie

Year:

2018

Language:

german

File:

PDF, 846 KB

german, 2018

8

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

Michaela Auer-Grumbach, Beate Schlotter-Weigel, Hanns Lochmüller, Gertrud Strobl-Wildemann, Piet Auer-Grumbach, Renate Fischer, Hans Offenbacher, Ernst Bernhard Zwick, Tanja Robl, Gerald Hartl, Hans-P

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 275 KB

english, 2005

9

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

Christian Beetz, Stephan Zuchner, Allison Ashley-Koch, Michaela Auer-Grumbach, Paula Byrne, Patrick F. Chinnery, Michael Hutchinson, Christopher J. McDermott, Inge A. Meijer, Anders O.H. Nygren, Marga

Journal:

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

10

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

Annelies Rotthier, Anke Penno, Bernd Rautenstrauss, Michaela Auer-Grumbach, Georg M. Stettner, Bob Asselbergh, Kim Van Hoof, Heinrich Sticht, Nicolas Lévy, Vincent Timmerman, Thorsten Hornemann, Katri

Journal:

Year:

2011

Language:

english

File:

PDF, 615 KB

english, 2011

11

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene

C. Proukakis, M. Auer-Grumbach, K. Wagner, P.A. Wilkinson, E. Reid, M.A. Patton, T.T. Warner, A.H. Crosby

Journal:

Year:

2003

Language:

english

File:

PDF, 31 KB

english, 2003

12

HEREDITARY SENSORY NEUROPATHY TYPE I: HAPLOTYPE ANALYSIS SHOWS FOUNDERS IN SOUTHERN ENGLAND AND EUROPE

GA Nicholson, JL Dawkins, IP Blair, M Auer-Grumbach, SB Brahmbhatt, DJ. Hulme

Journal:

Journal of the Peripheral Nervous System

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

13

Hereditäre motorisch-sensible Neuropathien (Charcot-Marie-Tooth Syndrom) und verwandte Neuropathien Aktuelle Klassifikation und Genotyp-Phänotyp-Korrelationen

Michaela Auer-Grumbach, K. Wagner, F. Fazekas, W.N. Löscher, S. Strasser-Fuchs, H.P. Hartung

Journal:

Year:

1999

Language:

german

File:

PDF, 216 KB

german, 1999

14

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

Michaela Auer-Grumbach, F. Fazekas, Herbert Radner, Andreas Irmler, Siegrid Strasser-Fuchs, Hans Peter Hartung

Journal:

Journal of Neurology

Year:

1999

Language:

english

File:

PDF, 143 KB

english, 1999

15

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

Christian Windpassinger, Klaus Wagner, Erwin Petek, Renate Fischer, Michaela Auer-Grumbach

Journal:

Year:

2003

Language:

english

File:

PDF, 301 KB

english, 2003

16

Analysis ofCYP7B1in non-consanguineous cases of hereditary spastic paraplegia

Rebecca Schüle, Elisabeth Brandt, Kathrin N. Karle, Maria Tsaousidou, Stephan Klebe, Sven Klimpe, Michaela Auer-Grumbach, Andrew H. Crosby, Christian A. Hübner, Ludger Schöls, Thomas Deufel, Christian

Journal:

Year:

2009

Language:

english

File:

PDF, 203 KB

english, 2009

17

Anticardiolipin antibodies in rheumatoid arthritis: their relation to rheumatoid nodules and cutaneous vascular manifestations

P. WOLF, J. GRETLER, F. AGLAS, P. AUER-GRUMBACH, F. RAINER

Journal:

British Journal of Dermatology

Year:

1994

Language:

english

File:

PDF, 360 KB

english, 1994

18

Pustulosis acuta generalisata is a post-streptococcal disease and is distinct from acute generalized exanthematous pustulosis

P. AUER-GRUMBACH, E. PFAFFENTHALER, H. P. SOYKR

Journal:

British Journal of Dermatology

Year:

1995

Language:

english

File:

PDF, 2.20 MB

english, 1995

19

Uncomplicated pregnancy and birth of a healthy child by a woman with systemic lupus erythematosus and anti-U1RNP, anti-PCNA/cyclin, anti-dsDNA and anti-phospholipid autoantibodies

P. AUER-GRUMBACH, H. RAMSCHAK, F. KAINER

Journal:

Clinical and Experimental Dermatology

Year:

1994

Language:

english

File:

PDF, 160 KB

english, 1994

20

A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes

Tiziana Daniele, Yvonne Hackmann, Alex T. Ritter, Matt Wenham, Sarah Booth, Giovanna Bossi, Michael Schintler, Michaela Auer-Grumbach, Gillian M. Griffiths

Journal:

Year:

2011

Language:

english

File:

PDF, 1.04 MB

english, 2011

21

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

MICHAELA AUER-GRUMBACH, KLAUS WAGNER, FRANZ PAYER, HANS-PETER HARTUNG

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 2.49 MB

1999

22

10.1038/85879

Dawkins, Jennifer L., Hulme, Dennis J., Brahmbhatt, Sonal B., Auer-Grumbach, Michaela, Nicholson, Garth A.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 100 KB

english, 2001

23

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Auer-Grumbach, Michaela, Olschewski, Andrea, Papić, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 689 KB

english, 2009

24

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Windpassinger, Christian, Auer-Grumbach, Michaela, Irobi, Joy, Patel, Heema, Petek, Erwin, Hörl, Gerd, Malli, Roland, Reed, Johanna A, Dierick, Ines, Verpoorten, Nathalie

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 1.36 MB

english, 2004

25

Molecular genetics of hereditary sensory neuropathies

Michaela Auer-Grumbach, Barbara Mauko, Piet Auer-Grumbach, Thomas R. Pieber

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 210 KB

english, 2006

26

Evaluation of two nonculture antigen tests and three serotests for detection of anti-chlamydial antibodies in the diagnosis of ocular chlamydial infections

Eva-Maria Haller, Piet Auer-Grumbach, Doris Stuenzner, Harald H. Kessler, Karen Pierer, Harald Zenz, Klaus Muellner

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

1996

Language:

english

File:

PDF, 498 KB

english, 1996

27

Increased IgM-anticardiolipin antibodies in patients with restenosis after percutaneous transluminal coronary angioplasty

Bernd Eber, Martin Schumacher, Piet Auer-Grumbach, Hermann Toplak, Werner Klein

Journal:

The American Journal of Cardiology

Year:

1992

Language:

english

File:

PDF, 450 KB

english, 1992

28

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

Rita-Eva Varga, Rizwan Mumtaz, Amir Jahic, Galina E. Rudenskaya, Elena Sánchez-Ferrero, Michaela Auer-Grumbach, Christian A. Hübner, Christian Beetz

Journal:

Analytical Biochemistry

Year:

2012

Language:

english

File:

PDF, 408 KB

english, 2012

29

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

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 Löscher, Petr

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 740 KB

english, 2010

30

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

L. Leonardis, M. Auer-Grumbach, L. Papić, J. Zidar

Journal:

European Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 493 KB

english, 2012

31

Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene

Windpassinger, C., Auer-Grumbach, M., Loscher, W. N., Miltenberger-Miltenyi, G., Janecke, A. R., Wanschitz, J. V., Timmerman, V.

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 127 KB

english, 2007

32

Long-term effects of vaginal dissection on the innervation of the striated urethral sphincter

Franjo Zivkovic, Karl Tamussino, George Ralph, Gerhard Schied, Michaela Auer-Grumbach

Journal:

Obstetrics & Gynecology

Year:

1996

Language:

english

File:

PDF, 362 KB

english, 1996

33

G.P.5.06 LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?

M. Auer-Grumbach, C. Fischer, N. Duong, A. Huebner, E. John, K. Wagner, M. Speicher, M. Wehnert

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

34

G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy

M. Auer-Grumbach, E. John, W. Wallefeld, C. Fischer, M. Speicher, N. Laing

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

35

P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis

C. Fiorillo, F. Moro, G. Astrea, R. Battini, C. Gully, A. Olschewski, M. Auer-Grumbach, C. Bruno, F.M. Santorelli

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

36

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

Jennifer L Dawkins, Sonal Brahmbhatt, Michaela Auer-Grumbach, Klaus Wagner, Hans-Peter Hartung, Kristien Verhoeven, Vincent Timmerman, Peter De Jonghe, Marina Kennerson, Eric LeGuern, Garth A Nicholso

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 48 KB

english, 2002

37

Hereditary Sensory Neuropathy Type I: Haplotype Analysis Shows Founders in Southern England and Europe

G.A. Nicholson, J.L. Dawkins, I.P. Blair, M. Auer-Grumbach, S.B. Brahmbhatt, D.J. Hulme

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 337 KB

english, 2001

38

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

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, Klau

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.29 MB

english, 2003

39

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

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L. Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer-Grumbach, Klaus

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.87 MB

english, 2004

40

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

L. Schöls, R. Schüle, B. Mauko, M. Auer-Grumbach, L. Schöls

Journal:

Clinical Neurophysiology

Year:

2007

Language:

english

File:

PDF, 98 KB

english, 2007

41

Molecular genetics of hereditary sensory neuropathies

Michaela Auer-Grumbach, Barbara Mauko, Piet Auer-Grumbach, Thomas R. Pieber

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 210 KB

english, 2006

42

NovelINF2mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

Rodriguez, Patricia Q., Lohkamp, Bernhard, Celsi, Gianni, Mache, Christoph Johannes, Auer-Grumbach, Michaela, Wernerson, Annika, Hamajima, Nobuyuki, Tryggvason, Karl, Patrakka, Jaakko

Journal:

Pediatric Nephrology

Year:

2013

Language:

english

File:

PDF, 427 KB

english, 2013

43

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 694 KB

english, 2012

44

Roussy–Lévy syndrome is a phenotypic variant of Charcot–Marie–Tooth syndrome IA associated with a duplication on chromosome 17p11.2

M Auer-Grumbach, S Strasser-Fuchs, K Wagner, E Körner, F Fazekas

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 364 KB

english, 1998

45

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Beetz, C., Nygren, A.O.H., Schickel, J., Auer-Grumbach, M., Burk, K., Heide, G., Kassubek, J., Klimpe, S., Klopstock, T., Kreuz, F., Otto, S., Schule, R., Schols, L., Sperfeld, A. -D., Witte, O. W., D

Journal:

Year:

2006

Language:

english

File:

PDF, 515 KB

english, 2006

46

[Handbook of Clinical Neurology] Peripheral Nerve Disorders Volume 115 || Hereditary sensory and autonomic neuropathies

Auer-Grumbach, Michaela

Year:

2013

Language:

english

File:

PDF, 1.44 MB

english, 2013

47

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Rotthier, A., Baets, J., Vriendt, E. D., Jacobs, A., Auer-Grumbach, M., Levy, N., Bonello-Palot, N., Kilic, S. S., Weis, J., Nascimento, A., Swinkels, M., Kruyt, M. C., Jordanova, A., De Jonghe, P., T

Journal:

Year:

2009

Language:

english

File:

PDF, 383 KB

english, 2009

48

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vi

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 928 KB

english, 2013

49

Detection of Antichlamydial Antibodies in Tears

Haller, Eva-Maria, Auer-Grumbach, Piet, Stuenzner, Doris, Kessler, Harald H., Pierer, Karen, Muellner, Klaus, Zenz, Harald

Journal:

Year:

1997

Language:

english

File:

PDF, 670 KB

english, 1997

50

O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)

Oates, E.C., Rosser, A.M., Hafezparast, M., Lek, M., Scoto, M., Greensmith, L., Auer-Grumbach, M., Schule, R., Herrmann, D.N., Clarke, N.F., MacArthur, D.G., Züchner, S., Muntoni, F., Reilly, M.M., No

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013