Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: CMT, . Treffer: 32

2016

Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623 [OPEN ACCESS]
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2015

Jehna, M; Pirpamer, L; Khalil, M; Fuchs, S; Ropele, S; Langkammer, C; Pichler, A; Stulnig, F; Deutschmann, H; Fazekas, F; Enzinger, C Periventricular lesions correlate with cortical thinning in multiple sclerosis.
Ann Neurol. 2015; 78(4): 530-539.
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Roos, A; Weis, J; Korinthenberg, R; Fehrenbach, H; Häusler, M; Züchner, S; Mache, C; Hubmann, H; Auer-Grumbach, M; Senderek, J Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst. 2015; 20(1):52-59 (- Case Report)
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2014

Brozkova, DS; Mazanec, R; Bohm, J; Vysata, O; Auer-Grumbach, M; Windpassinger, C; Neupauerova, J; Barankova, L; Nevsimalova, S; Seeman, P Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families
CESK SLOV NEUROL N. 2014; 77(4): 479-486.
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Schabhüttl, M; Wieland, T; Senderek, J; Baets, J; Timmerman, V; De Jonghe, P; Reilly, MM; Stieglbauer, K; Laich, E; Windhager, R; Erwa, W; Trajanoski, S; Strom, TM; Auer-Grumbach, M Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
J Neurol. 2014; 261(5):970-982
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Weber, S; Wagner, M; Hilbi, H Live-cell imaging of phosphoinositide dynamics and membrane architecture during Legionella infection.
MBio. 2014; 5(1):e00839-e00813 [OPEN ACCESS]
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2012

Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523 [OPEN ACCESS]
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Kobesova, A; Kolar, P; Mlckova, J; Svehlik, M; Morris, CE; Frank, C; Lepsikova, M; Kozak, J Effect of functional stabilization training on balance and motor patterns in a patient with Charcot-Marie-Tooth disease.
Neuro Endocrinol Lett. 2012; 33(1):3-10
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2011

Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain. 2011; 134(Pt 6):1839-1852 [OPEN ACCESS]
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Daniele, T; Hackmann, Y; Ritter, AT; Wenham, M; Booth, S; Bossi, G; Schintler, M; Auer-Grumbach, M; Griffiths, GM A role for rab7 in the movement of secretory granules in cytotoxic T lymphocytes.
Traffic. 2011; 12(7): 902-911. [OPEN ACCESS]
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2009

Miltenberger-Miltenyi, G; Schwarzbraun, T; Löscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich-Schwaiger, H; Zoller, H; Utermann, G; Auer-Grumbach, M; Janecke, AR Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Eur J Hum Genet. 2009; 17(9): 1154-1159. [OPEN ACCESS]
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Rotthier, A; Baets, J; De Vriendt, E; Jacobs, A; Auer-Grumbach, M; Lévy, N; Bonello-Palot, N; Kilic, SS; Weis, J; Nascimento, A; Swinkels, M; Kruyt, MC; Jordanova, A; De Jonghe, P; Timmerman, V Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain. 2009; 132(Pt 10): 2699-2711. [OPEN ACCESS]
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2008

Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 [OPEN ACCESS]
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Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495
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2007

Miltenberger-Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer-Grumbach, M; Löscher, WN Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol. 2007; 64(7):966-970 [OPEN ACCESS]
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Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter-Weigel, B; Barisic, N; Schols, L; Laura, M; Janecke, AR; Miltenberger-Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer-Grumbach, M; Nicholson, G; Pareyson, D Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
J NEUROL SCI. 2007; 263(1-2): 100-106. [OPEN ACCESS]
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2006

Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR Molecular genetics of hereditary sensory neuropathies.
NEUROMOL MED. 2006; 8(1-2): 147-158.
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Verhoeven, K; Claeys, KG; Züchner, S; Schröder, JM; Weis, J; Ceuterick, C; Jordanova, A; Nelis, E; De Vriendt, E; Van Hul, M; Seeman, P; Mazanec, R; Saifi, GM; Szigeti, K; Mancias, P; Butler, IJ; Kochanski, A; Ryniewicz, B; De Bleecker, J; Van den Bergh, P; Verellen, C; Van Coster, R; Goemans, N; Auer-Grumbach, M; Robberecht, W; Milic Rasic, V; Nevo, Y; Tournev, I; Guergueltcheva, V; Roelens, F; Vieregge, P; Vinci, P; Moreno, MT; Christen, HJ; Shy, ME; Lupski, JR; Vance, JM; De Jonghe, P; Timmerman, V MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain. 2006; 129(Pt 8):2093-2102 [OPEN ACCESS]
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Verhoeven, K; Timmerman, V; Mauko, B; Pieber, TR; De Jonghe, P; Auer-Grumbach, M Recent advances in hereditary sensory and autonomic neuropathies.
CURR OPIN NEUROL. 2006; 19(5): 474-480.
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2005

Plaisier, E; Mougenot, B; Verpont, MC; Jouanneau, C; Archelos, JJ; Martini, R; Kerjaschki, D; Ronco, P Glomerular permeability is altered by loss of P0, a myelin protein expressed in glomerular epithelial cells.
J Am Soc Nephrol. 2005; 16(11):3350-3356 [OPEN ACCESS]
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2004

Auer-Grumbach, M Hereditary sensory neuropathies.
Drugs Today (Barc). 2004; 40(5):385-394
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Evgrafov, OV; Mersiyanova, I; Irobi, J; Van Den Bosch, L; Dierick, I; Leung, CL; Schagina, O; Verpoorten, N; Van Impe, K; Fedotov, V; Dadali, E; Auer-Grumbach, M; Windpassinger, C; Wagner, K; Mitrovic, Z; Hilton-Jones, D; Talbot, K; Martin, JJ; Vasserman, N; Tverskaya, S; Polyakov, A; Liem, RK; Gettemans, J; Robberecht, W; De Jonghe, P; Timmerman, V Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet. 2004; 36(6):602-606 [OPEN ACCESS]
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2003

Auer-Grumbach, M; Strasser-Fuchs, S; Robl, T; Windpassinger, C; Wagner, K Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology. 2003; 61(10):1435-1437 (- Case Report)
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Verhoeven, K; De Jonghe, P; Coen, K; Verpoorten, N; Auer-Grumbach, M; Kwon, JM; FitzPatrick, D; Schmedding, E; De Vriendt, E; Jacobs, A; Van Gerwen, V; Wagner, K; Hartung, HP; Timmerman, V Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Am J Hum Genet. 2003; 72(3):722-727 [OPEN ACCESS]
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2000

Auer-Grumbach, M; De Jonghe, P; Wagner, K; Verhoeven, K; Hartung, HP; Timmerman, V Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Neurology. 2000; 55(10):1552-1557
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Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P; Hartung, HP Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.
Neurology. 2000; 54(1):45-52
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1999

Auer-Grumbach, M; Wagner, K; Fazekas, F; Löscher, WN; Strasser-Fuchs, S; Hartung, HP Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation
Nervenarzt. 1999; 70(12):1052-1061
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Senderek, J; Hermanns, B; Bergmann, C; Boroojerdi, B; Bajbouj, M; Hungs, M; Ramaekers, VT; Quasthoff, S; Karch, D; Schröder, JM X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
J Neurol Sci. 1999; 167(2):90-101
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Sindou, P; Vallat, JM; Chapon, F; Archelos, JJ; Tabaraud, F; Anani, T; Braund, KG; Maisonobe, T; Hauw, JJ; Vandenberghe, A Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease.
Muscle Nerve. 1999; 22(1):99-104 (- Case Report)
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1998

Senderek, J; Bergmann, C; Quasthoff, S; Ramaekers, VT; Schröder, JM X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Acta Neuropathol (Berl). 1998; 95(5):443-449 (- Case Report)
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1996

Auer-Grumbach, M; Wagner, K; Strasser-Fuchs, S; Millner, M; Fazekas, F Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family
Nervenarzt. 1996; 67(2):155-159
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Wolf, G; Kohek, P; Geyer, E; Pakisch, B; Langsteger, W; Ramschak, S; Passath, A Intraoperative radiation therapy, endotracheal hyperthermia and IR-192-brachytherapy in patients with advanced thyroid cancer.
Acta Med Austriaca. 1996; 23(1-2):76-79
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