Examinant per Autoria "Roos, Andreas"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents(Wiley, 2022) Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Hehir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas
Ítem Accés Obert Biochemical and pathological changes result from mutated Caveolin-3 in muscle(BioMed Central, 2018) González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E.; Münchberg, Ute; Lorenz, Kristina; Buchkremer, Stephan; Carr, Stephanie; Zahedi, René P.; Brauers, Eva; Michels, Hannah; Sunada, Yoshihide; Lochmüller, Hanns; Campbell, Kevin P.; Freier, Erik; Hathazi, Denisa; Roos, Andreas
Ítem Accés Obert Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy(Wiley, 2022) Schorling, David; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; SMArtCARE consortium; Sickmann, Albert; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas
Ítem Accés Obert Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights(Taylor and Francis, 2022) Kakouri, Andrea C.; Koutalianos, Demetris; Koutsoulidou, Andrie; Oulas, Anastasis; Tomazou, Marios; Nikolenko, Nikoletta; Turner, Chris; Roos, Andreas; Lusakowska, Anna; Janiszewska, Katarzyna; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Papanicolaou, Eleni Zamba; Gorman, Grainne S.; Lochmüller, Hanns; Spyrou, George M.; Phylactou, Leonidas A.
Ítem Accés Obert Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD(Elsevier, 2018) Coenen-Stass, Anna M.L.; Sork, Helena; Gatto, Sole; Godfrey, Caroline; Bhomra, Amarjit; Krjutškov, Kaarel; Hart, Jonathan R.; Westholm, Jakub O.; O'Donovan, Liz; Roos, Andreas; Lochmüller, Hanns; Puri, Pier Lorenzo; El Andaloussi, Samir; Wood, Matthew J.A.; Roberts, Thomas C.
Ítem Accés Obert Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)(Nature Research, 2021) Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas
Ítem Accés Obert GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice(Oxford University Press, 2018) Issop, Yasmin; Hathazi, Denisa; Khan, Muzamil Majid; Rudolf, Rüdiger; Weis, Joachim; Spendiff, Sally; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns
Ítem Accés Obert GNE myopathy: from clinics and genetics to pathology and research strategies(BioMed Central, 2018) Pogoryelova, Oksana; González Coraspe, José Andrés; Nikolenko, Nikoletta; Lochmüller, Hanns; Roos, Andreas
Ítem Accés Obert Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement(Wiley, 2022) Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas
Ítem Accés Obert Long term follow-up on pediatric cases with congenital myasthenic syndromes-a retrospective single centre cohort study(Frontiers Media, 2020) Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kölbel, Heike; Lochmüller, Hanns; Roos, Andreas; Schara-Schmidt, Ulrike
Ítem Accés Obert Modulation of agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish(MDPI, 2019) O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns
Ítem Accés Obert Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome(Frontiers Media, 2020) Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns
Ítem Accés Obert Molecular pathophysiology of human MICU1 deficiency(Wiley, 2021) Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas
Ítem Accés Obert Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation(Wolters Kluwer (LWW), 2018) Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita
Ítem Accés Obert Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons(Oxford University Press, 2018) Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita
Ítem Accés Obert Neuromuscular junction changes in a mouse model of charcot-marie-tooth disease type 4C(MDPI, 2018) Cipriani, Silvia; Phan, Vietxuan; Médard, Jean-Jacques; Horvath, Rita; Lochmüller, Hanns; Chrast, Roman; Roos, Andreas; Spendiff, Sally
Ítem Accés Obert Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects(BioMed Central, 2022) Arlt, Annabelle; Kohlschmidt, Nicolai; Hentschel, Andreas; Bartels, Enrika; Groß, Claudia; Töpf, Ana; Edem, Pinar; Szabo, Nora; Sickmann, Albert; Meyer, Nancy; Schara-Schmidt, Ulrike; Lau, Jarred; Lochmüller, Hanns; Horvath, Rita; Oktay, Yavuz; Roos, Andreas; Hiz, Semra
Ítem Accés Obert Serum miRNAs as biomarkers for the rare types of muscular dystrophy(Elsevier, 2022) Koutsoulidou, Andrie; Koutalianos, Demetris; Georgiou, Kristia; Kakouri, Andrea C.; Oulas, Anastasis; Tomazou, Marios; Kyriakides, Tassos C.; Roos, Andreas; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Spyrou, George M.; Papanicolaou, Eleni Zamba; Lochmüller, Hanns; Phylactou, Leonidas A.
Ítem Accés Obert Severe neurodevelopmental disease caused by a homozygous TLK2 variant(Springer, 2020) Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita