Works matching AU Auer-Grumbach, Michaela

Results: 52

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Published in:

2016

By:

Albulym, Obaid M.;
Kennerson, Marina L.;
Harms, Matthew B.;
Drew, Alexander P.;
Siddell, Anna H.;
Auer‐Grumbach, Michaela;
Pestronk, Alan;
Connolly, Anne;
Baloh, Robert H.;
Zuchner, Stephan;
Reddel, Stephen W.;
Nicholson, Garth A.;
Auer-Grumbach, Michaela

Publication type:

journal article

His108Arg Transthyretin Amyloidosis—Shedding Light on a Distinctively Malignant Variant.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 24, p. 7857, doi. 10.3390/jcm13247857

By:

Binder, Christina;
Schmid, Lena Marie;
Kronberger, Christina;
Poledniczek, Michael;
Rettl, René;
Schlein, Johanna;
Ermolaev, Nikita;
Ligios, Luciana Camuz;
Auer-Grumbach, Michaela;
Hengstenberg, Christian;
Eslam, Roza Badr;
Kastner, Johannes;
Bergler-Klein, Jutta;
Kammerlander, Andreas Anselm;
Duca, Franz

Publication type:

Article

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2234, doi. 10.3390/jcm9072234

By:

Auer-Grumbach, Michaela;
Rettl, Rene;
Ablasser, Klemens;
Agis, Hermine;
Beetz, Christian;
Duca, Franz;
Gattermeier, Martin;
Glaser, Franz;
Hacker, Markus;
Kain, Renate;
Kaufmann, Birgit;
Kovacs, Gabor G.;
Lampl, Christian;
Ljevakovic, Neira;
Nagele, Jutta;
Pölzl, Gerhard;
Quasthoff, Stefan;
Raimann, Bernadette;
Rauschka, Helmut;
Reiter, Christian

Publication type:

Article

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29

By:

Miltenberger-Miltenyi, Gabriel;
Schwarzbraun, Thomas;
Löscher, Wolfgang N.;
Wanschitz, Julia;
Windpassinger, Christian;
Duba, Hans-Christoph;
Seidl, Rainer;
Albrecht, Gerhard;
Weirich-Schwaiger, Helga;
Zoller, Heinz;
Utermann, Gerd;
Auer-Grumbach, Michaela;
Janecke, Andreas R.

Publication type:

Article

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Published in:

Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406

By:

Zimo?, Magdalena;
Baets, Jonathan;
Almeida-Souza, Leonardo;
De Vriendt, Els;
Nikodinovic, Jelena;
Parman, Yesim;
gcaron, Esra;
Matur, Zeliha;
Guergueltcheva, Velina;
Tournev, Ivailo;
Auer-Grumbach, Michaela;
De Rijk, Peter;
Petersen, Britt-Sabina;
Müller, Thomas;
Fransen, Erik;
Van Damme, Philip;
Löscher, Wolfgang N;
Bariši?, Nina;
Mitrovic, Zoran;
Previtali, Stefano C

Publication type:

Article

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

Published in:

Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508

By:

Auer-Grumbach, Michaela;
Olschewski, Andrea;
Papić, Lea;
Kremer, Hannie;
McEntagart, Meriel E.;
Uhrig, Sabine;
Fischer, Carina;
Fröhlich, Eleonore;
Bálint, Zoltán;
Bi Tang;
Strohmaier, Heimo;
Lochmüller, Hanns;
Schlotter-Weigel, Beate;
Senderek, Jan;
Krebs, Angelika;
Dick, Katherine J.;
Petty, Richard;
Longman, Cheryl;
Anderson, Neil E.;
Padberg, George W.

Publication type:

Article

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Published in:

Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354

By:

Evgrafov, Oleg V.;
Mersiyanova, Irena;
Irobi, Joy;
Van Den Bosch, Ludo;
Dierick, Ines;
Leung, Conrad L.;
Schagina, Olga;
Verpoorten, Nathalie;
Van Impe, Katrien;
Fedotov, Valeriy;
Dadali, Elena;
Auer-Grumbach, Michaela;
Windpassinger, Christian;
Wagner, Klaus;
Mitrovic, Zoran;
Hilton-Jones, David;
Talbot, Kevin;
Martin, Jean-Jacques;
Vasserman, Natalia;
Tverskaya, Svetlana

Publication type:

Article

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

Published in:

Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313

By:

Windpassinger, Christian;
Auer-Grumbach, Michaela;
Irobi, Joy;
Patel, Heema;
Petek, Erwin;
Hörl, Gerd;
Malli, Roland;
Reed, Johanna A.;
Dierick, Ines;
Verpoorten, Nathalie;
Warner, Thomas T.;
Proukakis, Christos;
Van den Bergh, Peter;
Verellen, Christine;
Maldergem, Lionel Van;
Merlini, Luciano;
De Jonghe, Peter;
Timmerman, Vincent;
Crosby, Andrew H.;
Wagner, Klaus

Publication type:

Article

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

Published in:

Nature Genetics, 2001, v. 27, n. 3, p. 309, doi. 10.1038/85879

By:

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

Publication type:

Article

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Published in:

Journal of the Peripheral Nervous System, 2015, v. 20, n. 1, p. 52, doi. 10.1111/jns.12106

By:

Roos, Andreas;
Weis, Joachim;
Korinthenberg, Rudolf;
Fehrenbach, Henry;
Häusler, Martin;
Züchner, Stephan;
Mache, Christoph;
Hubmann, Holger;
Auer‐Grumbach, Michaela;
Senderek, Jan

Publication type:

Article

Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1268, doi. 10.3390/jpm11121268

By:

Agibetov, Asan;
Kammerlander, Andreas;
Duca, Franz;
Nitsche, Christian;
Koschutnik, Matthias;
Donà, Carolina;
Dachs, Theresa-Marie;
Rettl, René;
Stria, Alessa;
Schrutka, Lore;
Binder, Christina;
Kastner, Johannes;
Agis, Hermine;
Kain, Renate;
Auer-Grumbach, Michaela;
Samwald, Matthias;
Hengstenberg, Christian;
Dorffner, Georg;
Mascherbauer, Julia;
Bonderman, Diana

Publication type:

Article

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b

By:

Chen, Ya-Chun;
Auer-Grumbach, Michaela;
Matsukawa, Shinya;
Zitzelsberger, Manuela;
Themistocleous, Andreas C;
Strom, Tim M;
Samara, Chrysanthi;
Moore, Adrian W;
Cho, Lily Ting-Yin;
Young, Gareth T;
Weiss, Caecilia;
Schabhüttl, Maria;
Stucka, Rolf;
Schmid, Annina B;
Parman, Yesim;
Graul-Neumann, Luitgard;
Heinritz, Wolfram;
Passarge, Eberhard;
Watson, Rosemarie M;
Hertz, Jens Michael

Publication type:

Article

Transcriptional regulator PRDM12 is essential for human pain perception.

Published in:

Nature Genetics, 2015, v. 47, n. 7, p. 803, doi. 10.1038/ng.3308

By:

Chen, Ya-Chun;
Stafford, Fay;
Nahorski, Michael S;
Shaikh, Samiha S;
Carvalho, Ofélia P;
Woods, C Geoffrey;
Schmid, Annina B;
Parman, Yesim;
Graul-Neumann, Luitgard;
Heinritz, Wolfram;
Passarge, Eberhard;
Watson, Rosemarie M;
McAleer, Maeve A;
Hertz, Jens Michael;
Moog, Ute;
Baumgartner, Manuela;
Valente, Enza Maria;
Auer-Grumbach, Michaela;
Schabhüttl, Maria;
Windhager, Reinhard

Publication type:

Article

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.

Published in:

2021

By:

Dohrn, Maike F.;
Auer-Grumbach, Michaela;
Baron, Ralf;
Birklein, Frank;
Escolano-Lozano, Fabiola;
Geber, Christian;
Grether, Nicolai;
Hagenacker, Tim;
Hund, Ernst;
Sachau, Juliane;
Schilling, Matthias;
Schmidt, Jens;
Schulte-Mattler, Wilhelm;
Sommer, Claudia;
Weiler, Markus;
Wunderlich, Gilbert;
Hahn, Katrin

Publication type:

Literature Review

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Published in:

Journal of Neurology, 2015, v. 262, n. 9, p. 2124, doi. 10.1007/s00415-015-7727-2

By:

Strickland, Alleene;
Schabhüttl, Maria;
Offenbacher, Hans;
Synofzik, Matthis;
Hauser, Natalie;
Brunner-Krainz, Michaela;
Gruber-Sedlmayr, Ursula;
Moore, Steven;
Windhager, Reinhard;
Bender, Benjamin;
Harms, Matthew;
Klebe, Stephan;
Young, Peter;
Kennerson, Marina;
Garcia, Avencia;
Gonzalez, Michael;
Züchner, Stephan;
Schule, Rebecca;
Shy, Michael;
Auer-Grumbach, Michaela

Publication type:

Article

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Published in:

Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8

By:

Schabhüttl, Maria;
Wieland, Thomas;
Senderek, Jan;
Baets, Jonathan;
Timmerman, Vincent;
De Jonghe, Peter;
Reilly, Mary;
Stieglbauer, Karl;
Laich, Eva;
Windhager, Reinhard;
Erwa, Wolfgang;
Trajanoski, Slave;
Strom, Tim;
Auer-Grumbach, Michaela

Publication type:

Article

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Published in:

Journal of Neurology, 2012, v. 259, n. 3, p. 515, doi. 10.1007/s00415-011-6213-8

By:

Fischer, Carina;
Trajanoski, Slave;
Papić, Lea;
Windpassinger, Christian;
Bernert, Günther;
Freilinger, Michael;
Schabhüttl, Maria;
Arslan-Kirchner, Mine;
Javaher-Haghighi, Poupak;
Plecko, Barbara;
Senderek, Jan;
Rauscher, Christian;
Löscher, Wolfgang;
Pieber, Thomas;
Janecke, Andreas;
Auer-Grumbach, Michaela

Publication type:

Article

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-016-0407-3

By:

Geuens, Thomas;
De Winter, Vicky;
Rajan, Nicholas;
Achsel, Tilmann;
Mateiu, Ligia;
Almeida-Souza, Leonardo;
Asselbergh, Bob;
Bouhy, Delphine;
Auer-Grumbach, Michaela;
Bagni, Claudia;
Timmerman, Vincent

Publication type:

Article

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

Published in:

Traffic, 2011, v. 12, n. 7, p. 902, doi. 10.1111/j.1600-0854.2011.01194.x

By:

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

Publication type:

Article

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 15, p. 1917, doi. 10.1093/hmg/ddg198

By:

Lee, Ming-Jen;
Stephenson, Dennis A.;
Groves, Michael J.;
Sweeney, Mary G.;
Davis, Mary B.;
An, Shu-Fang;
Houlden, Henry;
Salih, Mustafa A. M.;
Timmerman, Vincent;
de Jonghe, Peter;
Auer-Grumbach, Michaela;
Di Maria, Emilio;
Scaravilli, Francesco;
Wood, Nicholas W.;
Reilly, Mary M.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 875, doi. 10.1002/ajmg.b.32458

By:

Kurth, Ingo;
Baumgartner, Manuela;
Schabhüttl, Maria;
Tomni, Cecilia;
Windhager, Reinhard;
Strom, Tim M.;
Wieland, Thomas;
Gremel, Kurt;
Auer‐Grumbach, Michaela

Publication type:

Article

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.

Published in:

Autophagy, 2019, v. 15, n. 6, p. 1051, doi. 10.1080/15548627.2019.1569930

By:

Haidar, Mansour;
Asselbergh, Bob;
Adriaenssens, Elias;
De Winter, Vicky;
Timmermans, Jean-Pierre;
Auer-Grumbach, Michaela;
Juneja, Manisha;
Timmerman, Vincent

Publication type:

Article

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2124, doi. 10.1093/brain/awh232

By:

Joy Irobi;
Peter Van den Bergh;
Luciano Merlini;
Christine Verellen;
Lionel Van Maldergem;
Ines Dierick;
Nathalie Verpoorten;
Albena Jordanova;
Christian Windpassinger;
Els De Vriendt;
Veerle Van Gerwen;
Michaela Auer-Grumbach;
Klaus Wagner;
Vincent Timmerman;
Peter De Jonghe

Publication type:

Article

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation.

Published in:

Annals of Neurology, 2005, v. 57, n. 3, p. 415

By:

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‐Peter Hartung;
Klaus Wagner;
Christian Windpassinger

Publication type:

Article

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Published in:

Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3

By:

Tey, Shelisa;
Shahrizaila, Nortina;
Drew, Alexander P.;
Samulong, Sarimah;
Goh, Khean-Jin;
Battaloglu, Esra;
Atkinson, Derek;
Parman, Yesim;
Jordanova, Albena;
Chung, Ki Wha;
Choi, Byung-Ok;
Li, Yi-Chung;
Auer-Grumbach, Michaela;
Nicholson, Garth A.;
Kennerson, Marina L.;
Ahmad-Annuar, Azlina

Publication type:

Article

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 195, doi. 10.1007/s10048-012-0328-7

By:

Fiorillo, Chiara;
Moro, Francesca;
Brisca, Giacomo;
Astrea, Guja;
Nesti, Claudia;
Bálint, Zoltán;
Olschewski, Andrea;
Meschini, Maria;
Guelly, Christian;
Auer-Grumbach, Michaela;
Battini, Roberta;
Pedemonte, Marina;
Romano, Alessandro;
Menchise, Valeria;
Biancheri, Roberta;
Santorelli, Filippo;
Bruno, Claudio

Publication type:

Article

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6

By:

Dufke, Claudia;
Schlipf, Nina;
Schüle, Rebecca;
Bonin, Michael;
Auer-Grumbach, Michaela;
Stevanin, Giovanni;
Depienne, Christel;
Kassubek, Jan;
Klebe, Stephan;
Klimpe, Sven;
Klopstock, Thomas;
Otto, Susanne;
Poths, Sven;
Seibel, Andrea;
Stolze, Henning;
Gal, Andreas;
Schöls, Ludger;
Bauer, Peter

Publication type:

Article

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

Published in:

Neurogenetics, 2009, v. 10, n. 2, p. 97, doi. 10.1007/s10048-008-0158-9

By:

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

Publication type:

Article

Reduction in <sup>99m</sup>Tc-DPD myocardial uptake with therapy of ATTR cardiomyopathy.

Published in:

Amyloid, 2024, v. 31, n. 1, p. 42, doi. 10.1080/13506129.2023.2247136

By:

Rettl, René;
Calabretta, Raffaella;
Duca, Franz;
Binder, Christina;
Kronberger, Christina;
Willixhofer, Robin;
Poledniczek, Michael;
Donà, Carolina;
Nitsche, Christian;
Beitzke, Dietrich;
Loewe, Christian;
Auer-Grumbach, Michaela;
Bonderman, Diana;
Kastl, Stefan;
Hengstenberg, Christian;
Badr Eslam, Roza;
Kastner, Johannes;
Bergler-Klein, Jutta;
Hacker, Marcus;
Kammerlander, Andreas

Publication type:

Article

Hereditary sensory neuropathy type I.

Published in:

2008

By:

Auer-Grumbach M;
Auer-Grumbach, Michaela

Publication type:

journal article

Hereditary sensory neuropathy type I.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-7

By:

Auer-Grumbach, Michaela

Publication type:

Article

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

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508

By:

Beetz, Christian;
Zuchner, Stephan;
Ashley-Koch, Allison;
Auer-Grumbach, Michaela;
Byrne, Paula;
Chinnery, Patrick F.;
Hutchinson, Michael;
McDermott, Christopher J.;
Meijer, Inge A.;
Nygren, Anders O.H.;
Pericak-Vance, Margaret;
Pyle, Angela;
Rouleau, Guy A.;
Schickel, Jörg;
Shaw, Pamela J.;
Deufel, Thomas

Publication type:

Article

Molecular genetics of hereditary sensory neuropathies.

Published in:

NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 147, doi. 10.1385/NMM:8:1-2:147

By:

Auer-Grumbach, Michaela;
Mauko, Barbara;
Auer-Grumbach, Piet;
Pieber, Thomas

Publication type:

Article

Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.

Published in:

Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038

By:

Rudnik-Schöneborn, Sabine;
Auer-Grumbach, Michaela;
Senderek, Jan

Publication type:

Article

Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.

Published in:

Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038

By:

Rudnik-Schöneborn, Sabine;
Auer-Grumbach, Michaela;
Senderek, Jan

Publication type:

Article

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

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 99, doi. 10.1007/s00439-003-1021-6

By:

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

Publication type:

Article

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

Published in:

2013

By:

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

Publication type:

Report

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Published in:

2019

By:

Rattay, Tim W;
Lindig, Tobias;
Baets, Jonathan;
Smets, Katrien;
Deconinck, Tine;
Söhn, Anne S;
Hörtnagel, Konstanze;
Eckstein, Kathrin N;
Wiethoff, Sarah;
Reichbauer, Jennifer;
Döbler-Neumann, Marion;
Krägeloh-Mann, Ingeborg;
Auer-Grumbach, Michaela;
Plecko, Barbara;
Münchau, Alexander;
Wilken, Bernd;
Janauschek, Marc;
Giese, Anne-Katrin;
Bleecker, Jan L De;
Ortibus, Els

Publication type:

journal article

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. e286, doi. 10.1093/brain/awu091

By:

Fischer, Dirk;
Schabhüttl, Maria;
Wieland, Thomas;
Windhager, Reinhard;
Strom, Tim M.;
Auer-Grumbach, Michaela

Publication type:

Article

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184

By:

Baets, Jonathan;
Deconinck, Tine;
De Vriendt, Els;
Zimoń, Magdalena;
Yperzeele, Laetitia;
Van Hoorenbeeck, Kim;
Peeters, Kristien;
Spiegel, Ronen;
Parman, Yesim;
Ceulemans, Berten;
Van Bogaert, Patrick;
Pou-Serradell, Adolf;
Bernert, Günther;
Dinopoulos, Argirios;
Auer-Grumbach, Michaela;
Sallinen, Satu-Leena;
Fabrizi, Gian Maria;
Pauly, Fernand;
Van den Bergh, Peter;
Bilir, Birdal

Publication type:

Article

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1839, doi. 10.1093/brain/awr076

By:

Auer-Grumbach, Michaela;
Weger, Martin;
Fink-Puches, Regina;
Papić, Lea;
Fröhlich, Eleonore;
Auer-Grumbach, Piet;
El Shabrawi-Caelen, Laila;
Schabhüttl, Maria;
Windpassinger, Christian;
Senderek, Jan;
Budka, Herbert;
Trajanoski, Slave;
Janecke, Andreas R.;
Haas, Anton;
Metze, Dieter;
Pieber, Thomas R.;
Guelly, Christian

Publication type:

Article

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109

By:

Zimoń, Magdalena;
Baets, Jonathan;
Auer-Grumbach, Michaela;
Berciano, José;
Garcia, Antonio;
Lopez-Laso, Eduardo;
Merlini, Luciano;
Hilton-Jones, David;
McEntagart, Meriel;
Crosby, Andrew H.;
Barisic, Nina;
Boltshauser, Eugen;
Shaw, Christopher E.;
Landouré, Guida;
Ludlow, Christy L.;
Gaudet, Rachelle;
Houlden, Henry;
Reilly, Mary M.;
Fischbeck, Kenneth H.;
Sumner, Charlotte J.

Publication type:

Article

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

Published in:

2009

By:

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;
Rotthier, Annelies;
Baets, Jonathan;
De Vriendt, Els;
Jacobs, An;
Auer-Grumbach, Michaela

Publication type:

journal article

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

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198

By:

Rotthier, Annelies;
Baets, Jonathan;
De Vriendt, Els;
Jacobs, An;
Auer-Grumbach, Michaela;
Lévy, Nicolas;
Bonello-Palot, Nathalie;
Kilic, Sara Sebnem;
Weis, Joachim;
Nascimento, Andrés;
Swinkels, Marielle;
Kruyt, Moyo C.;
Jordanova, Albena;
De Jonghe, Peter;
Timmerman, Vincent

Publication type:

Article

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217

By:

Ines Dierick;
Jonathan Baets;
Joy Irobi;
An Jacobs;
Els De Vriendt;
Tine Deconinck;
Luciano Merlini;
Peter Van den Bergh;
Vedrana Milic Rasic;
Wim Robberecht;
Dirk Fischer;
Raul Juntas Morales;
Zoran Mitrovic;
Pavel Seeman;
Radim Mazanec;
Andrzej Kochanski;
Albena Jordanova;
Michaela Auer-Grumbach;
A. T. J. M. Helderman-van den Enden;
John H. J. Wokke

Publication type:

Article

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

Published in:

Journal of Neurology, 2000, v. 247, n. 7, p. 530

By:

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

Publication type:

Article

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

Published in:

Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 469, doi. 10.1111/j.1749-6632.1999.tb08613.x

By:

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

Publication type:

Article

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

Published in:

Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3

By:

Evilä, Anni;
Palmio, Johanna;
Vihola, Anna;
Savarese, Marco;
Tasca, Giorgio;
Penttilä, Sini;
Lehtinen, Sara;
Jonson, Per;
De Bleecker, Jan;
Rainer, Peter;
Auer-Grumbach, Michaela;
Pouget, Jean;
Salort-Campana, Emmanuelle;
Vilchez, Juan;
Muelas, Nuria;
Olive, Montse;
Hackman, Peter;
Udd, Bjarne

Publication type:

Article

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.

Published in:

Wiener Klinische Wochenschrift, 2020, v. 132, n. 23/24, p. 742, doi. 10.1007/s00508-020-01781-z

By:

Bonderman, Diana;
Pölzl, Gerhard;
Ablasser, Klemens;
Agis, Hermine;
Aschauer, Stefan;
Auer-Grumbach, Michaela;
Binder, Christina;
Dörler, Jakob;
Duca, Franz;
Ebner, Christian;
Hacker, Marcus;
Kain, Renate;
Kammerlander, Andreas;
Koschutnik, Matthias;
Kroiss, Alexander Stephan;
Mayr, Agnes;
Nitsche, Christian;
Rainer, Peter P.;
Reiter-Malmqvist, Susanne;
Schneider, Matthias

Publication type:

Article

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

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2211, doi. 10.1002/humu.21481

By:

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

Publication type:

Article