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

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Auer-Grumbach Michaela |

** = Publikationen gelistet in SCI/SSCI/Pubmed

2020

Originalarbeit (Zeitschrift)

** Bonderman, D; Pölzl, G; Ablasser, K; Agis, H; Aschauer, S; Auer-Grumbach, M; Binder, C; Dörler, J; Duca, F; Ebner, C; Hacker, M; Kain, R; Kammerlander, A; Koschutnik, M; Kroiss, AS; Mayr, A; Nitsche, C; Rainer, PP; Reiter-Malmqvist, S; Schneider, M; Schwarz, R; Verheyen, N; Weber, T; Zaruba, MM; Badr Eslam, R; Hülsmann, M; Mascherbauer, J Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.
Wien Klin Wochenschr. 2020; 132(23-24):742-761 Doi: 10.1007/s00508-020-01781-z [OPEN ACCESS]
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2017

Originalarbeit (Zeitschrift)

** Evilä, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttilä, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Mol Neurobiol. 2017; 54(9):7212-7223 Doi: 10.1007/s12035-016-0242-3 [OPEN ACCESS]
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** Geuens, T; De Winter, V; Rajan, N; Achsel, T; Mateiu, L; Almeida-Souza, L; Asselbergh, B; Bouhy, D; Auer-Grumbach, M; Bagni, C; Timmerman, V Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Acta Neuropathol Commun. 2017; 5(1):5-5 Doi: 10.1186/s40478-016-0407-3 [OPEN ACCESS]
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2016

Originalarbeit (Zeitschrift)

** 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 Doi: 10.1016/j.ajhg.2016.07.008 [OPEN ACCESS]
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** Heschl, S; Hallmann, B; Zilke, T; Gemes, G; Schoerghuber, M; Auer-Grumbach, M; Quehenberger, F; Lirk, P; Hogan, Q; Rigaud, M Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block.
Br J Anaesth. 2016; 116(4):538-545 Doi: 10.1093/bja/aew027 [OPEN ACCESS]
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2015

Originalarbeit (Zeitschrift)

** Strickland, AV; Schabhüttl, M; Offenbacher, H; Synofzik, M; Hauser, NS; Brunner-Krainz, M; Gruber-Sedlmayr, U; Moore, SA; Windhager, R; Bender, B; Harms, M; Klebe, S; Young, P; Kennerson, M; Garcia, AS; Gonzalez, MA; Züchner, S; Schule, R; Shy, ME; Auer-Grumbach, M Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol. 2015; 262(9):2124-2134 Doi: 10.1007/s00415-015-7727-2 [OPEN ACCESS]
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2013

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Bode, H; Pieber, TR; Schabhüttl, M; Fischer, D; Seidl, R; Graf, E; Wieland, T; Schuh, R; Vacariu, G; Grill, F; Timmerman, V; Strom, TM; Hornemann, T Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Eur J Med Genet. 2013; 56(5):266-269 Doi: 10.1016/j.ejmg.2013.02.002 (- Case Report) [OPEN ACCESS]
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** Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; Cottenie, E; Scoto, M; Foley, AR; Hurles, M; Houlden, H; Greensmith, L; Auer-Grumbach, M; Pieber, TR; Strom, TM; Schule, R; Herrmann, DN; Sowden, JE; Acsadi, G; Menezes, MP; Clarke, NF; Züchner, S; UK10K; Muntoni, F; North, KN; Reilly, MM Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Am J Hum Genet. 2013; 92(6):965-973 Doi: 10.1016/j.ajhg.2013.04.018 [OPEN ACCESS]
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2012

Originalarbeit (Zeitschrift)

** Dufke, C; Schlipf, N; Schule, R; Bonin, M; Auer-Grumbach, M; Stevanin, G; Depienne, C; Kassubek, J; Klebe, S; Klimpe, S; Klopstock, T; Otto, S; Poths, S; Seibel, A; Stolze, H; Gal, A; Schols, L; Bauer, P; A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
NEUROGENETICS. 2012; 13(3): 215-227. Doi: 10.1007/s10048-012-0329-6
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** Fiorillo, C; Moro, F; Brisca, G; Astrea, G; Nesti, C; Balint, Z; Olschewski, A; Meschini, MC; Guelly, C; Auer-Grumbach, M; Battini, R; Pedemonte, M; Romano, A; Menchise, V; Biancheri, R; Santorelli, FM; Bruno, C TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Neurogenetics. 2012; 13(3):195-203 Doi: 10.1007/s10048-012-0328-7 (- Case Report)
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** 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 Doi: 10.1007/s00415-011-6213-8 [OPEN ACCESS]
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** Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; Straub, V; Manzur, AY; Roper, H; Jeannet, PY; Rakowicz, W; Jones, DH; Jensen, UB; Wraige, E; Trump, N; Schara, U; Lochmuller, H; Sarkozy, A; Kingston, H; Norwood, F; Damian, M; Kirschner, J; Longman, C; Roberts, M; Auer-Grumbach, M; Hughes, I; Bushby, K; Sewry, C; Robb, S; Abbs, S; Jungbluth, H; Muntoni, F Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
HUM MUTAT. 2012; 33(6): 981-988. Doi: 10.1002/humu.22056
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** Leonardis, L; Auer-Grumbach, M; Papić, L; Zidar, J The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Eur J Neurol. 2012; 19(7):992-998 Doi: 10.1111/j.1468-1331.2012.03665.x
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** Varga, RE; Mumtaz, R; Jahic, A; Rudenskaya, GE; Snchez-Ferrero, E; Auer-Grumbach, M; Hübner, CA; Beetz, C MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.
Anal Biochem. 2012; 421(2):799-801 Doi: 10.1016/j.ab.2011.12.002
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** Zimon, M; Baets, J; Almeida-Souza, L; De Vriendt, E; Nikodinovic, J; Parman, Y; Battaloglu, E; Matur, Z; Guergueltcheva, V; Tournev, I; Auer-Grumbach, M; De Rijk, P; Petersen, BS; Muller, T; Fransen, E; Van Damme, P; Loscher, WN; Barisic, N; Mitrovic, Z; Previtali, SC; Topaloglu, H; Bernert, G; Beleza-Meireles, A; Todorovic, S; Savic-Pavicevic, D; Ishpekova, B; Lechner, S; Peeters, K; Ooms, T; Hahn, AF; Zuchner, S; Timmerman, V; Van Dijck, P; Rasic, VM; Janecke, AR; De Jonghe, P; Jordanova, A; Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
NAT GENET. 2012; 44(10): 1080-1083. Doi: 10.1038/ng.2406
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Übersichtsarbeit

** Finsterer, J; Löscher, W; Quasthoff, S; Wanschitz, J; Auer-Grumbach, M; Stevanin, G Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
J Neurol Sci. 2012; 318(1-2):1-18 Doi: 10.1016/j.jns.2012.03.025
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Korrektur

** Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, HY; Quinlivan, R; Straub, V; Manzur, AY; Roper, H; Jeannet, PY; Rakowicz, W; Jones, DH; Jensen, UB; Wraige, E; Trump, N; Schara, U; Lochmuller, H; Sarkozy, A; Kingston, H; Norwood, F; Damian, M; Kirschner, J; Longman, C; Roberts, M; Auer-Grumbach, M; Hughes, I; Bushby, K; Sewry, C; Robb, S; Abbs, S; Jungbluth, H; Muntoni, F; Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012).
HUM MUTAT. 2012; 33(8): 1310-1310. Doi: 10.1002/humu.22136
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Abstract (Zeitschrift)

** Fiorillo, C; Moro, F; Astrea, G; Brisca, G; Battini, R; Auer-Grumbach, M; Santorelli, FM; Bruno, C TRPV4 MUTATIONS IN CHILDREN WITH CONGENITAL DISTAL SPINAL MUSCULAR ATROPHY
J PERIPHER NERV SYST. . 2012; 17: S24-S25.-Meeting of the Italian-Association-for-the-Peripheral-Nervous-System and Pain and Neuroscience Group of the Italian-Society-of-Neurology; APR 12-14, 2012; Pisa, ITALY. [Poster]
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2011

Originalarbeit (Zeitschrift)

** 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 Doi: 10.1093/brain/awr076 [OPEN ACCESS]
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** Baets, J; Deconinck, T; De Vriendt, E; Zimoń, M; Yperzeele, L; Van Hoorenbeeck, K; Peeters, K; Spiegel, R; Parman, Y; Ceulemans, B; Van Bogaert, P; Pou-Serradell, A; Bernert, G; Dinopoulos, A; Auer-Grumbach, M; Sallinen, SL; Fabrizi, GM; Pauly, F; Van den Bergh, P; Bilir, B; Battaloglu, E; Madrid, RE; Kabzińska, D; Kochanski, A; Topaloglu, H; Miller, G; Jordanova, A; Timmerman, V; De Jonghe, P Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain. 2011; 134(Pt 9):2664-2676 Doi: 10.1093/brain/awr184 [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. Doi: 10.1111/j.1600-0854.2011.01194.x [OPEN ACCESS]
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** Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 Doi: 10.1016/j.ajhg.2010.12.003 [OPEN ACCESS]
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** Rotthier, A; Penno, A; Rautenstrauss, B; Auer-Grumbach, M; Stettner, GM; Asselbergh, B; Van Hoof, K; Sticht, H; Levy, N; Timmerman, V; Hornemann, T; Janssens, K Characterization of Two Mutations in the SPTLC1 Subunit of Serine Palmitoyltransferase Associated with Hereditary Sensory and Autonomic Neuropathy Type I
HUM MUTAT. 2011; 32(6): E2211-E2225. Doi: 10.1002/humu.21481 [OPEN ACCESS]
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** Zimon, M; Baets, J; Fabrizi, GM; Jaakkola, E; Kabzinska, D; Pilch, J; Schindler, AB; Cornblath, DR; Fischbeck, KH; Auer-Grumbach, M; Guelly, C; Huber, N; De Vriendt, E; Timmerman, V; Suter, U; Hausmanowa-Petrusewicz, I; Niemann, A; Kochanski, A; De Jonghe, P; Jordanova, A Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Neurology. 2011; 77(6): 540-548. Doi: 10.1212/WNL.0b013e318228fc70 [OPEN ACCESS]
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Übersichtsarbeit

** Finsterer, J; Papić, L; Auer-Grumbach, M Motor neuron, nerve, and neuromuscular junction disease.
Curr Opin Neurol. 2011; 24(5):469-474 Doi: 10.1097/WCO.0b013e32834a9448
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Abstract (Zeitschrift)

** Fiorillo, C; Moro, F; Astrea, G; Battini, R; Gully, C; Olschewski, A; Auer-Grumbach, M; Bruno, C; Santorelli, FM Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis
NEUROMUSCULAR DISORD. 2011; 21(9-10):682-682.-16th International Congress of the World-Muscle-Society; OCT 18-22, 2011; Algarve, PORTUGAL. Doi: 10.1016/j.nmd.2011.06.896 [Poster]
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** Janssens, K; Rotthier, A; Penno, A; Van Hoof, K; Auer-Grumbach, M; Hornemann, T; Timmerman, V HSAN TYPE I CAUSED BY MUTATIONS IN SPTLC1 AND SPTLC2 IS CONSISTENTLY ASSOCIATED WITH REDUCED SPT ACTIVITY IN VITRO AND FORMATION OF DEOXYSPHINGOID BASES IN VIVO.
J PERIPHER NERV SYST. 2011; 16: S60-S60.
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2010

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet. 2010; 42(2):160-164 Doi: 10.1038/ng.508 [OPEN ACCESS]
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** Papić, L; Fischer, D; Trajanoski, S; Höftberger, R; Fischer, C; Ströbel, T; Schmidt, WM; Bittner, RE; Schabhüttl, M; Gruber, K; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Eur J Med Genet. 2010; 54(3):214-219 Doi: 10.1016/j.ejmg.2010.12.003 [OPEN ACCESS]
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** Rotthier, A; Auer-Grumbach, M; Janssens, K; Baets, J; Penno, A; Almeida-Souza, L; Van Hoof, K; Jacobs, A; De Vriendt, E; Schlotter-Weigel, B; Loscher, W; Vondracek, P; Seeman, P; De Jonghe, P; Van Dijck, P; Jordanova, A; Hornemann, T; Timmerman, V Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
AMER J HUM GENET. 2010; 87(4): 513-522. Doi: 10.1016/j.ajhg.2010.09.010 [OPEN ACCESS]
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** Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P; Bonneau, D; Marques, W; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF Multi-system neurological disease is common in patients with OPA1 mutations.
Brain. 2010; 133(Pt 3): 771-786. Doi: 10.1093/brain/awq007 [OPEN ACCESS]
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** Zimon, M; Baets, J; Auer-Grumbach, M; Berciano, J; Garcia, A; Lopez-Laso, E; Merlini, L; Hilton-Jones, D; McEntagart, M; Crosby, AH; Barisic, N; Boltshauser, E; Shaw, CE; Landoure, G; Ludlow, CL; Gaudet, R; Houlden, H; Reilly, MM; Fischbeck, KH; Sumner, CJ; Timmerman, V; Jordanova, A; De Jonghe, P Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
BRAIN. 2010; 133(Pt 6): 1798-1809. Doi: 10.1093/brain/awq109 [OPEN ACCESS]
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2009

Originalarbeit (Zeitschrift)

** Goizet, C; Boukhris, A; Maltete, D; Guyant-Maréchal, L; Truchetto, J; Mundwiller, E; Hanein, S; Jonveaux, P; Roelens, F; Loureiro, J; Godet, E; Forlani, S; Melki, J; Auer-Grumbach, M; Fernandez, JC; Martin-Hardy, P; Sibon, I; Sole, G; Orignac, I; Mhiri, C; Coutinho, P; Durr, A; Brice, A; Stevanin, G SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Neurology. 2009; 73(14): 1111-1119. Doi: 10.1212/WNL.0b013e3181bacf59
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** 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. Doi: 10.1038/ejhg.2009.29 [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. Doi: 10.1093/brain/awp198 [OPEN ACCESS]
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** Schule, R; Brandt, E; Karle, KN; Tsaousidou, M; Klebe, S; Klimpe, S; Auer-Grumbach, M; Crosby, AH; Hubner, CA; Schols, L; Deufel, T; Beetz, C Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Neurogenetics. 2009; 10(2):97-104 Doi: 10.1007/s10048-008-0158-9
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2008

Originalarbeit (Zeitschrift)

** 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 Doi: 10.1055/s-2008-1077085 [OPEN ACCESS]
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** Dierick, I; Baets, J; Irobi, J; Jacobs, A; De Vriendt, E; Deconinck, T; Merlini, L; Van den Bergh, P; Rasic, VM; Robberecht, W; Fischer, D; Morales, RJ; Mitrovic, Z; Seeman, P; Mazanec, R; Kochanski, A; Jordanova, A; Auer-Grumbach, M; Helderman-van den Enden, ATJM; Wokke, JHJ; Nelis, E; De Jonghe, P; Timmerman, V Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain. 2008; 131(Pt 5):1217-1227 Doi: 10.1093/brain/awn029 [OPEN ACCESS]
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** Rankin, J; Auer-Grumbach, M; Bagg, W; Colclough, K; Nguyen, TD; Fenton-May, J; Hattersley, A; Hudson, J; Jardine, P; Josifova, D; Longman, C; McWilliam, R; Owen, K; Walker, M; Wehnert, M; Ellard, S Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A. 2008; 146A(12):1530-1542 Doi: 10.1002/ajmg.a.32331
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** Schule, R; Kremer, BPH; Kassubek, J; Auer-Grumbach, M; Kostic, V; Klopstock, T; Klimpe, S; Otto, S; Boesch, S; van de Warrenburg, BP; Schols, L SPG10 is a rare cause of spastic paraplegia in European families.
J Neurol Neurosurg Psychiatry. 2008; 79(5):584-587 Doi: 10.1136/jnnp.2007.137596
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Übersichtsarbeit

** Auer-Grumbach, M Hereditary sensory neuropathy type I.
Orphanet J Rare Dis. 2008; 3(6):7-7 Doi: 10.1186/1750-1172-3-7 [OPEN ACCESS]
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2007

Originalarbeit (Zeitschrift)

** Ivanova, N; Claeys, KG; Deconinck, T; Litvinenko, I; Jordanova, A; Auer-Grumbach, M; Haberlova, J; Löfgren, A; Smeyers, G; Nelis, E; Mercelis, R; Plecko, B; Priller, J; Zámecník, J; Ceulemans, B; Erichsen, AK; Björck, E; Nicholson, G; Sereda, MW; Seeman, P; Kremensky, I; Mitev, V; De Jonghe, P Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Arch Neurol. 2007; 64(5):706-713 Doi: 10.1001/archneur.64.5.706 [OPEN ACCESS]
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** 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 Doi: 10.1001/archneur.64.7.966 [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. Doi: 10.1016/j.jns.2007.06.047 [OPEN ACCESS]
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Kurzbericht/Letter

** Beetz, C; Zuchner, S; Ashley-Koch, A; Auer-Grumbach, M; Byrne, P; Chinnery, PF; Hutchinson, M; McDermott, CJ; Meijer, IA; Nygren, AO; Pericak-Vance, M; Pyle, A; Rouleau, GA; Schickel, J; Shaw, PJ; Deufel, T Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Hum Mutat. 2007; 28(7):739-740 Doi: 10.1002/humu.20508
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Abstract (Zeitschrift)

** Auer-Grumbach, M; Fischer, C; Duong, N; Huebner, A; John, E; Wagner, K; Speicher, M; Wehnert, M LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?
NEUROMUSCULAR DISORD. 2007; 17(9-10):799-799. Doi: 10.1016/j.nmd.2007.06.129 [Poster]
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** Auer-Grumbach, M; John, E; Wallefeld, W; Fischer, C; Speicher, M; Laing, N A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy
NEUROMUSCULAR DISORD. 2007; 17(9-10):883-884. Doi: 10.1016/j.nmd.2007.06.407 [Poster]
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2006

Originalarbeit (Zeitschrift)

** Beetz, C; Nygren, AO; Schickel, J; Auer-Grumbach, M; Bürk, K; Heide, G; Kassubek, J; Klimpe, S; Klopstock, T; Kreuz, F; Otto, S; Schüle, R; Schöls, L; Sperfeld, AD; Witte, OW; Deufel, T High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
Neurology. 2006; 67(11):1926-1930 Doi: 10.1212/01.wnl.0000244413.49258.f5
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** Coen, K; Pareyson, D; Auer-Grumbach, M; Buyse, G; Goemans, N; Claeys, KG; Verpoorten, N; Laura, M; Scaioli, V; Salmhofer, W; Pieber, TR; Nelis, E; De Jonghe, P; Timmerman, V Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
NEUROLOGY. 2006; 66(5): 748-751. Doi: 10.1212/01.wnl.0000201191.57519.47
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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 Doi: 10.1093/brain/awl126 [OPEN ACCESS]
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Übersichtsarbeit

** Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR Molecular genetics of hereditary sensory neuropathies.
NEUROMOL MED. 2006; 8(1-2): 147-158. Doi: 10.1385/NMM:8:1:147
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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. Doi: 10.1097/01.wco.0000245370.82317.f6
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Abstract (Zeitschrift)

** Claeys, K; Ivanova, N; Deconinck, T; Litvinenko, I; Jordanova, A; Loefgren, A; Nelis, E; Mercelis, R; Auer-Grumbach, M; Priller, J; Ceulemans, B; Sereda, M; Kremensky, I; Mitev, V; De Jonghe, P SPG3A mutations are associated with pure and complex forms of Hereditary Spastic Paraplegia
NEUROMUSCULAR DISORD. 16: S63-S63. [Poster]
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** Zgonc, V; Leonardis, L; Auer-Grumbach, M; Strom, TM; Wagenstaller, J; Mauko, B; Pieber, TR; Zidar, J A new type of Hereditary Ulcero-Mutilating Neuropathy in Slovene kinship unlinked to Hereditary Sensory Neuropathy Type 1 and Charcot-Marie-Tooth disease Type 2B loci
NEUROMUSCULAR DISORD. 2006; 16: S132-S133. [Poster]
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2005

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Schlotter-Weigel, B; Lochmüller, H; Strobl-Wildemann, G; Auer-Grumbach, P; Fischer, R; Offenbacher, H; Zwick, EB; Robl, T; Hartl, G; Hartung, HP; Wagner, K; Windpassinger, C; Austrian Peripheral Neuropathy Study Group Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Ann Neurol. 2005; 57(3):415-424 Doi: 10.1002/ana.20410
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2004

Originalarbeit (Zeitschrift)

** Chen, YZ; Bennett, CL; Huynh, HM; Blair, IP; Puls, I; Irobi, J; Dierick, I; Abel, A; Kennerson, ML; Rabin, BA; Nicholson, GA; Auer-Grumbach, M; Wagner, K; De Jonghe, P; Griffin, JW; Fischbeck, KH; Timmerman, V; Cornblath, DR; Chance, PF DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Am J Hum Genet. 2004; 74(6):1128-1135 Doi: 10.1086/421054 [OPEN ACCESS]
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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 Doi: 10.1038/ng1354 [OPEN ACCESS]
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** Irobi, J; Van den Bergh, P; Merlini, L; Verellen, C; Van Maldergem, L; Dierick, I; Verpoorten, N; Jordanova, A; Windpassinger, C; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
BRAIN. 2004; 127(Pt 9): 2124-2130. Doi: 10.1093/brain/awh232 [OPEN ACCESS]
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** Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Hörl, G; Malli, R; Reed, JA; Dierick, I; Verpoorten, N; Warner, TT; Proukakis, C; Van den Bergh, P; Verellen, C; Van Maldergem, L; Merlini, L; De Jonghe, P; Timmerman, V; Crosby, AH; Wagner, K Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet. 2004; 36(3):271-276 Doi: 10.1038/ng1313 [OPEN ACCESS]
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Übersichtsarbeit

** Auer-Grumbach, M Hereditary sensory neuropathies.
Drugs Today (Barc). 2004; 40(5):385-394 Doi: 10.1358/dot.2004.40.5.850487
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2003

Originalarbeit (Zeitschrift)

** 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 Doi: 10.1212/01.WNL.0000094197.46109.75 (- Case Report)
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** Lee, MJ; Stephenson, DA; Groves, MJ; Sweeney, MG; Davis, MB; An, SF; Houlden, H; Salih, MA; Timmerman, V; de Jonghe, P; Auer-Grumbach, M; Di Maria, E; Scaravilli, F; Wood, NW; Reilly, MM Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Hum Mol Genet. 2003; 12(15):1917-1925 Doi: 10.1093/hmg/ddg198 [OPEN ACCESS]
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** Proukakis, C; Auer-Grumbach, M; Wagner, K; Wilkinson, PA; Reid, E; Patton, MA; Warner, TT; Crosby, AH Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Hum Mutat. 2003; 21(2): 170-170. Doi: 10.1002/humu.9108 [OPEN ACCESS]
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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 Doi: 10.1086/367847 [OPEN ACCESS]
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** Windpassinger, C; Wagner, K; Petek, E; Fischer, R; Auer-Grumbach, M Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
HUM GENET. 2003; 114(1): 99-109. Doi: 10.1007/s00439-003-1021-6
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Übersichtsarbeit

** Auer-Grumbach, M; De Jonghe, P; Verhoeven, K; Timmerman, V; Wagner, K; Hartung, HP; Nicholson, GA Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.
Arch Neurol. 2003; 60(3):329-334 Doi: 10.1001/archneur.60.3.329 [OPEN ACCESS]
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Abstract (Zeitschrift)

** Proukakis, C; Crosby, AH; Auer-Grumbach, M; Wagner, K; Reid, E; Patton, MA; Warner, TT Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations
J NEUROL NEUROSURG PSYCHIAT 2003 74: 406-407.
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2002

Originalarbeit (Zeitschrift)

** Dawkins, JL; Brahmbhatt, S; Auer-Grumbach, M; Wagner, K; Hartung, HP; Verhoeven, K; Timmerman, V; De Jonghe, P; Kennerson, M; LeGuern, E; Nicholson, GA Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Neuromuscul Disord. 2002; 12(7-8):656-658 Doi: 10.1016%2FS0960-8966%2802%2900015-9
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** De Jonghe, P; Auer-Grumbach, M; Irobi, J; Wagner, K; Plecko, B; Kennerson, M; Zhu, D; De Vriendt, E; Van Gerwen, V; Nicholson, G; Hartung, HP; Timmerman, V Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Brain. 2002; 125(Pt 6):1320-1325 Doi: 10.1093/brain/awf127 [OPEN ACCESS]
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Abstract (Zeitschrift)

** Devolder-Irobi, JI; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Plecko, B; Wagner, K; Kennerson, M; Nicholson, G; Zhu, D; Hartung, HP; Timmerman, V; De-Jonghe, P Autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) and distal hereditary motor neuropathy (distal HMN) with pyramidal tract signs
EUR J HUMAN GENET 2002 10: 214-215.
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** Timmerman, V; Verhoeven, K; Coen, K; Verpoorten, N; Auer-Grumbach, M; Kwon, JM; FitzPatrick, D; De Vriendt, E; Jacobs, A; Van Gerwen, V; Wagner, K; Hartung, HP; De Jonghe, P Mutations in the small GTPase late endosomal protein RAB7 are associated with Charcot-Marie-Tooth type 2B neuropathy.
AMER J HUM GENET 2002 71: 544-544.
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2001

Originalarbeit (Zeitschrift)

** Dawkins, JL; Hulme, DJ; Brahmbhatt, SB; Auer-Grumbach, M; Nicholson, GA Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
Nat Genet. 2001; 27(3):309-312 Doi: 10.1038/85879
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** Nicholson, GA; Dawkins, JL; Blair, IP; Auer-Grumbach, M; Brahmbhatt, SB; Hulme, DJ Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.
Am J Hum Genet. 2001; 69(3):655-659 Doi: 10.1086/323252 [OPEN ACCESS]
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Übersichtsarbeit

** Auer-Grumbach, M; Hartung, HP Proximal myotonic myopathy (PROMM): a new syndrome with neurological, internal, orthopedical, and ophthalmological features
WIEN KLIN WOCHENSCHR 2001 113: 485-490.
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Abstract (Zeitschrift)

** Verhoeven, K; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Pou-Serradell, A; de Jonghe, P; Timmerman, V Mutation screening of SPTLC1 in patients with hereditary sensory neuropathy type I.
AMER J HUM GENET. 2001; 69 S1(4):601-601.
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2000

Originalarbeit (Zeitschrift)

** 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 Doi: 10.1212/WNL.55.10.1552
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** Auer-Grumbach, M; Löscher, WN; Wagner, K; Petek, E; Körner, E; Offenbacher, H; Hartung, HP Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Brain. 2000; 123 ( Pt 8)(8):1612-1623 Doi: 10.1093%2Fbrain%2F123.8.1612 [OPEN ACCESS]
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** Auer-Grumbach, M; Wagner, K; Strasser-Fuchs, S; Löscher, WN; Fazekas, F; Millner, M; Hartung, HP Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
Muscle Nerve. 2000; 23(8):1243-1249 Doi: 10.1002%2F1097-4598%28200008%2923%3A8%3C1243%3A%3AAID-MUS13%3E3.0.CO%3B2-Z (- Case Report)
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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 Doi: 10.1212/WNL.54.1.45
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** Löscher, WN; Auer-Grumbach, M; Trinka, E; Ladurner, G; Hartung, HP Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands.
J NEUROL. 2000; 247(7): 530-534. Doi: 10.1007%2Fs004150070152
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Abstract (Zeitschrift)

** Verhoeven, K; De Vriendt, E; De Jonghe, P; Auer-Grumbach, M; Kwon, J; Wagner, K; Hartung, HP; Timmerman, V Ulcero-mutilating peripheral neuropathies: genetic linkage study and mutation analysis of candidate genes.
AMER J HUM GENET 2000 67: 325-325.
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1999

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Fazekas, F; Radner, H; Irmler, A; Strasser-Fuchs, S; Hartung, HP Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
J Neurol. 1999; 246(7):556-561 Doi: 10.1007%2Fs004150050403 (- Case Report)
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** Auer-Grumbach, M; Wagner, K; Payer, F; Hartung, HP Proximal Charcot-Marie-Tooth syndrome with duplication on chromosome 17p11.2.
Ann N Y Acad Sci. 1999; 883(1):469-471 Doi: 10.1111/j.1749-6632.1999.tb08613.x (- Case Report)
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Übersichtsarbeit

** 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 Doi: 10.1007/s001150050539
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1998

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Strasser-Fuchs, S; Wagner, K; Körner, E; Fazekas, F Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
J Neurol Sci. 1998; 154(1):72-75 Doi: 10.1016/S0022-510X(97)00218-9 (- Case Report)
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1996

Originalarbeit (Zeitschrift)

** 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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** Zivkovic, F; Tamussino, K; Ralph, G; Schied, G; Auer-Grumbach, M Long-term effects of vaginal dissection on the innervation of the striated urethral sphincter.
Obstet Gynecol. 1996; 87(2):257-260 Doi: 10.1016/0029-7844(95)00401-7
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1993

Originalarbeit (Zeitschrift)

** Zivkovic, F; Ralph, G; Schied, G; Auer-Grumbach, M The early effect of anterior colporrhaphy on the innervation of the external sphincter of the urethra
Gynakol Geburtshilfliche Rundsch. 1993; 33 Suppl 1(2): 74-75. Doi: 10.1159/000272168
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