Authors: 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
Subject Terms: Atròfia muscular espinal -- Tractament
File Description: application/pdf
Relation: info:eu-repo/grantAgreement/EC/H2020/956185; Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B et al. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur J Neurol. 2022 Mar 23. [Epub Ahead of Print]. DOI:10.1111/ene.15331; http://hdl.handle.net/10230/53261; http://dx.doi.org/10.1111/ene.15331
Authors: 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
Subject Terms: Connective tissue disorder, ER-stress, Fibroblast proteomics, Focal dermal hypoplasia, Goltz syndrome, Lamin a/c, Protein-serine O-palmitoleoyltransferase porcupine
File Description: application/pdf
Relation: Orphanet J Rare Dis. 2022 Jan 31;17(1):29; info:eu-repo/grantAgreement/EC/FP7/309548; info:eu-repo/grantAgreement/EC/FP7/313010; info:eu-repo/grantAgreement/EC/FP7/305444; info:eu-repo/grantAgreement/EC/H2020/779257; Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. DOI:10.1186/s13023-021-02068-w; http://hdl.handle.net/10230/52852; http://dx.doi.org/10.1186/s13023-021-02068-w
Authors: 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
Subject Terms: Fenotip, Malformacions, Deficiència mental, Trastorns del desenvolupament, Autofàgia
File Description: application/pdf
Relation: info:eu-repo/grantAgreement/EC/H2020/779257; Gangfuss A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A et al. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2022 Jan; 256(1): 93-107. DOI:10.1002/path.5812; http://hdl.handle.net/10230/52375; http://dx.doi.org/10.1002/path.5812
Authors: 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
Subject Terms: Genetics research, Next-generation sequencing
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Relation: Eur J Hum Genet. 2021;29(9):1348-53; info:eu-repo/grantAgreement/EC/H2020/779257; Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021;29(9):1348-53. DOI:10.1038/s41431-021-00851-8; http://hdl.handle.net/10230/49021; http://dx.doi.org/10.1038/s41431-021-00851-8