Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy

por Finkel, Richard S., Schara-Schmidt, Ulrike, Hagenacker, Tim
Publicado 2020

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

por Gangfuss, Andrea, Schmitt, Dirk, Roos, Andreas, Braun, Frederik, Annoussamy, Melanie, Servais, Laurent, Schara-Schmidt, Ulrike
Publicado 2021

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

por Kölbel, Heike, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
Publicado 2022

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

por Hentschel, Andreas, Czech, Artur, Münchberg, Ute, Freier, Erik, Schara-Schmidt, Ulrike, Sickmann, Albert, Reimann, Jens, Roos, Andreas
Publicado 2021

ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies

por Christiansen, Jon, Güttsches, Anne-Katrin, Schara-Schmidt, Ulrike, Vorgerd, Matthias, Heute, Christoph, Preusse, Corinna, Stenzel, Werner, Roos, Andreas
Publicado 2022

Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy

por Schmitt, Linda-Isabell, David, Christina, Steffen, Rebecca, Hezel, Stefanie, Roos, Andreas, Schara-Schmidt, Ulrike, Kleinschnitz, Christoph, Leo, Markus, Hagenacker, Tim
Publicado 2023

Essen transition model for neuromuscular diseases

por Fleischer, Michael, Coskun, Bayram, Stolte, Benjamin, Della-Marina, Adela, Kölbel, Heike, Lax, Hildegard, Nonnemacher, Michael, Kleinschnitz, Christoph, Schara-Schmidt, Ulrike, Hagenacker, Tim
Publicado 2022

„Essener Transitionsmodell“ bei neuromuskulären Erkrankungen

por Fleischer, Michael, Coskun, Bayram, Stolte, Benjamin, Della-Marina, Adela, Kölbel, Heike, Lax, Hildegard, Nonnemacher, Michael, Kleinschnitz, Christoph, Schara-Schmidt, Ulrike, Hagenacker, Tim
Publicado 2022

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

por Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas
Publicado 2022

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

por Unger, Andreas, Roos, Andreas, Gangfuß, Andrea, Hentschel, Andreas, Gläser, Dieter, Krause, Karsten, Doering, Kristina, Schara-Schmidt, Ulrike, Hoffjan, Sabine, Vorgerd, Matthias, Güttsches, Anne-Katrin
Publicado 2023

Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology

por Leo, Markus, Schmitt, Linda-Isabell, Mairinger, Fabian, Roos, Andreas, Hansmann, Christina, Hezel, Stefanie, Skuljec, Jelena, Pul, Refik, Schara-Schmidt, Ulrike, Kleinschnitz, Christoph, Hagenacker, Tim
Publicado 2023

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

por 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
Publicado 2021

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy

por Della Marina, Adela, Pawlitzki, Marc, Ruck, Tobias, van Baalen, Andreas, Vogt, Nadine, Schweiger, Bernd, Hertel, Swantje, Kölbel, Heike, Wiendl, Heinz, Preuße, Corinna, Roos, Andreas, Schara-Schmidt, Ulrike
Publicado 2021

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

por Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike
Publicado 2021

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

por Della Marina, Adela, Arlt, Annabelle, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas
Publicado 2021

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

por Johannsen, Jessika, Weiss, Deike, Driemeyer, Joenna, Olfe, Jakob, Stute, Fridrike, Müller, Ferdinand, Schütt, Marion, Trollmann, Regina, Kölbel, Heike, Schara-Schmidt, Ulrike, Kirschner, Janbernd, Pechmann, Astrid, Blaschek, Astrid, Horber, Veronka, Denecke, Jonas
Publicado 2023

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

por Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma
Publicado 2020

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

por 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
Publicado 2022

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

por Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Publicado 2023

Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

por Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Publicado 2023