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1
Academic Journal
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Authors: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit KeremAff4, Aff5, Bosco, LucaAff6, Aff7, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, AnitaAff8, Aff11, Aff12, Fattahi, ZohrehAff13, Aff14, Valentino, Maria LuciaAff15, Aff16, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca IoanaAff24, Aff25, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, KatharinaAff28, Aff29, Brugger, Melanie, Zuchner, StephanAff10, Aff30, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, AncaAff32, Aff33, Streata, IoanaAff32, Aff33, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, TheresaAff28, Aff29, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, MustafaAff10, Aff30, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, HülyaAff2, Aff39, Oflazer, Zehra Piraye, Escande-Beillard, NathalieAff1, Aff41, IDs41467024459335_cor57

Superior Title: Nature Communications. 15(1)

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2
Academic Journal
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Authors: Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T

Superior Title: Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Hornemann, T; et al (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain: a journal of neurology, 146(12):4880-4890.

Subject Terms: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health, Neurology (clinical)

File Description: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdf; info:pmid/37769650; urn:issn:0006-8950

Availability: https://doi.org/10.5167/uzh-25378810.1093/brain/awad328
https://www.zora.uzh.ch/id/eprint/253788/
https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdf

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11
Academic Journal
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy

Authors: Eggermann, Katjaj_medgen-2020-2033_aff_001_w2aab3b7c21b1b6b1aab1b4b4Aa, Gläser, Dieterj_medgen-2020-2033_aff_002_w2aab3b7c21b1b6b1aab1b4b5Aa, Abicht, Angelaj_medgen-2020-2033_aff_004_w2aab3b7c21b1b6b1aab1b4b7Aa, Wirth, Brunhildej_medgen-2020-2033_aff_005_w2aab3b7c21b1b6b1aab1b4b8Aa

Superior Title: Medizinische Genetik. 32(3):263-272

Availability: https://www.degruyter.com/document/doi/10.1515/medgen-2020-2033/html

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12
Academic Journal
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Authors: Falb, Ruth J, Müller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Stöbe, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmüller, Stephan, Beck-Wödl, Stefanie, Gläser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, Haack, Tobias B

Subject Terms: DDC 570 / Life sciences, DDC 610 / Medicine & health, Nervous system diseases, Genetics, Neuromuscular diseases, Neuropathologie, Neuromuskuläre Krankheit, Genetik

File Description: application/pdf

Relation: https://jmg.bmj.com/highwire/filestream/183711/field_highwire_adjunct_files/0/jmedgenet-2021-108064supp001_data_supplement.pdf; https://jmg.bmj.com/highwire/filestream/183711/field_highwire_adjunct_files/1/jmedgenet-2021-108064supp002_data_supplement.pdf; https://jmg.bmj.com/highwire/filestream/183711/field_highwire_adjunct_files/2/jmedgenet-2021-108064supp003_data_supplement.pdf; https://jmg.bmj.com/highwire/filestream/183711/field_highwire_adjunct_files/3/jmedgenet-2021-108064supp004_data_supplement.pdf; http://dx.doi.org/10.18725/OPARU-45991; https://oparu.uni-ulm.de/xmlui/123456789/46067; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-46067-8

Availability: https://doi.org/10.18725/OPARU-45991
https://oparu.uni-ulm.de/xmlui/123456789/46067
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-46067-8

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14
Academic Journal
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Authors: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

Superior Title: Brain

Subject Terms: Original Articles

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8219359/; http://www.ncbi.nlm.nih.gov/pubmed/33970200; http://dx.doi.org/10.1093/brain/awab041

Availability: https://doi.org/10.1093/brain/awab041
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8219359/
http://www.ncbi.nlm.nih.gov/pubmed/33970200

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15
Academic Journal
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Authors: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

Superior Title: Brain

Subject Terms: Errata

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418335/; http://www.ncbi.nlm.nih.gov/pubmed/34480796; http://dx.doi.org/10.1093/brain/awab193

Availability: https://doi.org/10.1093/brain/awab193
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418335/
http://www.ncbi.nlm.nih.gov/pubmed/34480796

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