Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Published in Orphanet journal of rare diseases (31.01.2022)
Published in Orphanet journal of rare diseases (31.01.2022)
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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
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Published in Pediatric neurology (01.08.2024)
Published in Pediatric neurology (01.08.2024)
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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