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Number of items: 14.
Journal article
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Vol. 144: pp. 574-583
Hartmannsberger, Beate; Doppler, Kathrin; Stauber, Julia; Schlotter-Weigel, Beate; Young, Peter; Sereda, Michael W. und Sommer, Claudia
(2020):
Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.
In: Brain Communications, Vol. 2, No. 1, 12
Villar-Quiles, Rocio N.; Hagen, Maja von der; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; Visser, Marianne de; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; Kooi, Anneke van der; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike und Ferreiro, Ana
(2020):
The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series.
In: Neurology, Vol. 95, No. 11, E1512-E1527
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Vol. 95, No. 24, E3163-E3179
Wu, Jingxia; Ma, Sicong; Sandhoff, Roger; Ming, Yanan; Hotz-Wagenblatt, Agnes; Timmerman, Vincent; Bonello-Palot, Nathalie; Schlotter-Weigel, Beate; Auer-Grumbach, Michaela; Seeman, Pavel; Löscher, Wolfgang N.; Reindl, Markus; Weiss, Florian; Mah, Eric; Weisshaar, Nina; Madi, Alaa; Mohr, Kerstin; Schlimbach, Tilo; Cardenas, Rubi M.-H. Velasco; Koeppel, Jonas; Grünschlaeger, Florian; Müller, Lisann; Baumeister, Maren; Bruegger, Britta; Schmitt, Michael; Wabnitz, Guido; Samstag, Yvonne und Cui, Guoliang
(2019):
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
In: Immunity, Vol. 50, No. 5
Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter und Senderek, Jan
(2019):
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
In: Clinical Genetics, Vol. 95, No. 1: pp. 182-186
Schlotter-Weigel, Beate und Senderek, Jan
(2018):
Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus.
In: Fortschritte der Neurologie, Psychiatrie, Vol. 86, No. 9: pp. 566-574
Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G. Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate und Biskup, Saskia
(2017):
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
In: Journal of Neurochemistry, Vol. 143, No. 5: pp. 507-522
Fledrich, Robert; Mannil, Manoj; Leha, Andreas; Ehbrecht, Caroline; Solari, Alessandra; Pelayo-Negro, Ana L.; Berciano, Jose; Schlotter-Weigel, Beate; Schnizer, Tuuli J.; Prukop, Thomas; Garcia-Angarita, Natalia; Czesnik, Dirk; Haberlova, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Walter, Maggie C.; Hogrel, Jean-Yves; Dubourg, Odile; Schenone, Angelo; Baets, Jonathan; Jonghe, Peter de; Shy, Michael E.; Horvath, Rita; Pareyson, Davide; Seeman, Pavel; Young, Peter und Sereda, Michael W.
(2017):
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
In: Journal of Neurology Neurosurgery and Psychiatry, Vol. 88, No. 11: pp. 941-952
[PDF, 2MB]
Hoyer, Carolin; Alonso, Angelika; Schlotter-Weigel, Beate; Platten, Michael und Fatar, Marc
(2017):
HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report.
In: Case Reports in Neurology, Vol. 9, No. 2: pp. 121-126
Auer-Grumbach, Michaela; Toegel, Stefan; Schabhüttl, Maria; Weinmann, Daniela; Chiari, Catharina; Bennett, David L. H.; Beetz, Christian; Klein, Dennis; Andersen, Peter M.; Böhme, Ilka; Fink-Puches, Regina; Gonzalez, Michael; Harms, Matthew B.; Motley, William; Reilly, Mary M.; Renner, Wilfried; Rudnik-Schoeneborn, Sabine; Schlotter-Weigel, Beate; Themistocleous, Andreas C.; Weishaupt, Jochen H.; Ludolph, Albert C.; Wieland, Thomas; Tao, Feifei; Abreu, Lisa; Windhager, Reinhard; Zitzelsberger, Manuela; Strom, Tim M.; Walther, Thomas; Scherer, Steven S.; Züchner, Stephan; Martini, Rudolf und Senderek, Jan
(2016):
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
In: American Journal of Human Genetics, Vol. 99, No. 3: pp. 607-623
Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt
(2016):
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
In: Neurology, Vol. 87, No. 3: pp. 295-298
Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C.; Hornemann, Thorsten und Ylikallio, Emil
(2016):
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
In: Neuromolecular Medicine, Vol. 18, No. 1: pp. 81-90
Walter, Maggie C.; Reilich, Peter; Thiele, Simone; Schessl, Joachim; Schreiber, Herbert; Reiners, Karlheinz; Kress, Wolfram; Mueller-Reible, Clemens; Vorgerd, Matthias; Urban, Peter; Schrank, Bertold; Deschauer, Marcus; Schlotter-Weigel, Beate; Kohnen, Ralf und Lochmueller, Hanns
(2013):
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
In: Orphanet Journal of Rare Diseases
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[PDF, 3MB]