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Anzahl der Publikationen: 7
Zeitschriftenartikel
Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus
(2022):
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
In: Movement Disorders, Bd. 37, Nr. 8: S. 1707-1718
Pechmann, Astrid; Behrens, Max; Doernbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zoeller, Daniela; Bernert, Gunther; Hagenacker, Tim; Walter, Maggie C.; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkoelbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Guenther, Rene; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Koehler, Cornelia; Koelbel, Heike; Mueller, Monika; Moers, Arpad von; Schwerin-Nagel, Annette; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Trollmann, Regina; Weiler, Markus; Weiss, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Ziegler, Andreas; Lochmueller, Hanns und Kirschner, Janbernd
(2022):
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 384
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Peseschkian, Tara; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroeter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Buechner, Boriana; Weiland, Ulrike; Schoenfelder, Erik; Heinrich, Felix; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
In: Brain Sciences, Bd. 11, Nr. 3, 372
Schischlevskij, Pavel; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Stendel, Claudia; Muschen, Lars H.; Osmanovic, Alma; Binz, Camilla; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers' Lives.
In: Brain Sciences, Bd. 11, Nr. 6, 748
Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B. und Haack, Tobias B.
(2020):
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
In: American Journal of Human Genetics, Bd. 107, Nr. 2: S. 364-373
Joshi, Pushpa Raj; Baty, Karen; Hopton, Sila; Cordts, Isabell; Falkous, Gavin; Schoser, Benedikt; Blakely, Emma L.; Taylor, Robert W. und Deschauer, Marcus
(2020):
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C > T MT-TP (mt-tRNA(Pro)) gene variant.
In: Neuromuscular Disorders, Bd. 30, Nr. 4: S. 346-350