Anzahl der Publikationen: 20
Zeitschriftenartikel
Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Ploeg, Ans T. van der; Vissing, John; Young, Peter; Haack, Kristina An; Foster, Meredith; Gilbert, Jane M.; Miossec, Patrick; Vitse, Olivier; Zhou, Tianyue und Schoser, Benedikt
(2022):
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
In: Neurology, Bd. 99, Nr. 5, E536-E548
Attarian, Shahram; Young, Peter; Brannagan, Thomas H.; Adams, David; Damme, Philip van; Thomas, Florian P.; Casanovas, Carlos; Tard, Celine; Walter, Maggie C.; Pereon, Yann; Walk, David; Stino, Amro; Visser, Marianne de; Verhamme, Camiel; Amato, Anthony; Carter, Gregory; Magy, Laurent; Statland, Jeffrey M. und Felice, Kevin
(2021):
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 433
Thunstedt, Dennis C.; Young, Peter; Kuepper, Clemens; Müller, Katharina; Becker, Regina; Erbert, Franziska; Lehner, Katharina; Rheinwald, Marika; Pfahler, Angelika; Dieterich, Marianne; Kellert, Lars und Feil, Katharina
(30. April 2020):
Follow-Up in Aphasia Caused by Acute Stroke in a Prospective, Randomized, Clinical, and Experimental Controlled Noninvasive Study With an iPad-Based App (Neolexon®): Study Protocol of the Lexi Study.
In: Frontiers in Neurology, Bd. 11, 294: S. 1-8
[PDF, 373kB]
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, Bd. 95, Nr. 24, E3163-E3179
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, Bd. 2, Nr. 1, 12
Brenner, David; Rosenbohm, Angela; Yilmaz, Ruestem; Mueller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G.; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Guenther, Kornelia; Huebers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E.; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M.; Freischmidt, Axel; Meitinger, Thomas; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Weyen, Ute; Hermann, Andreas; Winkler, Juergen; Hagenacker, Tim; Koch, Jan Christoph; Lingor, Paul; Goericke, Bettina; Zierz, Stephan; Baum, Petra; Wolf, Joachim; Winkler, Andrea; Young, Peter; Bogdahn, Ulrich; Prudlo, Johannes und Kassubek, Jan
(2019):
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
In: Brain, Bd. 142, e67
[PDF, 190kB]
Pena, Loren D. M.; Barohn, Richard J.; Byrne, Barry J.; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; Vissing, John; Young, Peter; Kacena, Katherine; Shafi, Raheel; Thurberg, Beth L.; Culm-Merdek, Kerry und van der Ploeg, Ans T.
(2019):
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
In: Neuromuscular Disorders, Bd. 29, Nr. 3: S. 167-186
Vill, Katharina; Müller-Felber, Wolfgang; Gläser, Dieter; Kuhn, Marius; Teusch, Veronika; Schreiber, Herbert; Weis, Joachim; Klepper, Jörg; Schirmacher, Anja; Blaschek, Astrid; Wiessner, Manuela; Strom, Tim M.; Draeger, Bianca; Hofmeister-Kiltz, Kristina; Tacke, Moritz; Gerstl, Lucia; Young, Peter; Horvath, Rita und Senderek, Jan
(2018):
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
In: Human Genetics, Bd. 137, Nr. 11-12: S. 911-919
Sommer, Claudia; Geber, Christian; Young, Peter; Forst, Raimund; Birklein, Frank und Schoser, Benedikt
(2018):
Polyneuropathies. Etiology, Diagnosis, and Treatment Options.
In: Deutsches Ärzteblatt International, Bd. 115, Nr. 6: S. 83-90
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, Bd. 88, Nr. 11: S. 941-952
[PDF, 2MB]
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, Bd. 143, Nr. 5: S. 507-522
Schoser, Benedikt; Fong, Edward; Geberhiwot, Tarekegn; Hughes, Derralynn; Kissel, John T.; Madathil, Shyam C.; Orlikowski, David; Polkey, Michael I.; Roberts, Mark; Tiddens, Harm A. W. M. und Young, Peter
(2017):
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.
In: Orphanet Journal of Rare Diseases
12:52
[PDF, 459kB]
Pena, Loren; Baron, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronki, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Merdek, Kerry; Short, Gerard und Ploeg, Ans van der
(2016):
Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients.
In: Molecular Genetics and Metabolism, Bd. 117, Nr. 2:
S92-S92
Trivedi, Jaya; Ploeg, Ans van der; Barohn, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard und Pena, Loren
(2016):
Phase 1 Safety and Pharmacokinetics of the Novel Enzyme Replacement Therapy neoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients.
In: Neurology, Bd. 86
Pena, Loren; Barohn, Richard; Byme, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Nlerdek, Kerry; Short, Gerard und Ploeg, Ans van der
(2016):
Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients.
In: Neurology, Bd. 86
Ploeg, Ans van der; Carlier, Pierre G.; Carlier, Robert-Yves; Kissel, John T.; Schoser, Benedikt; Wenninger, Stephan; Pestronk, Alan; Barohn, Richard J.; Dimachkie, Mazen M.; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Pena, Loren D. M.; Simmons, Zachary; Straub, Volker; Guglieri, Michela; Young, Peter; Boentert, Matthias; Baudin, Pierre-Yves; Wens, Stephan; Shafi, Raheel; Bjartmar, Carl und Thurberg, Beth L.
(2016):
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
In: Molecular Genetics and Metabolism, Bd. 119, Nr. 1-2: S. 115-123
Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard und Pena, Loren
(2016):
Phase 1 safety and pharmacokinetics of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients.
In: Molecular Genetics and Metabolism, Bd. 117, Nr. 2:
S117-S118
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Sat Dec 21 21:00:40 2024 CET
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