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Anzahl der Publikationen: 2
Zeitschriftenartikel
Dowling, James J.; Mueller-Felber, Wolfgang; Smith, Barbara K.; Bonnemann, Carsten G.; Kuntz, Nancy L.; Muntoni, Francesco; Servais, Laurent; Alfano, Lindsay N.; Beggs, Alan H.; Bilder, Deborah A.; Blaschek, Astrid; Duong, Tina; Graham, Robert J.; Jain, Minal; Lawlor, Michael W.; Lee, Jun; Coats, Julie; Lilien, Charlotte; Lowes, Linda P.; MacBean, Victoria; Neuhaus, Sarah; Noursalehi, Mojtaba; Pitts, Teresa; Finlay, Caroline; Christensen, Sarah; Rafferty, Gerrard; Seferian, Andreea M.; Tsuchiya, Etsuko; James, Emma S.; Miller, Weston; Sepulveda, Bryan; Vila, Maria Candida; Prasad, Suyash; Rico, Salvador und Shieh, Perry B.
(2022):
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 4: S. 503-516
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776