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Anzahl der Publikationen: 19
Zeitschriftenartikel
Erdmann, Hannes 
ORCID: https://orcid.org/0000-0002-2620-1850; Schaub, Annalisa ORCID: https://orcid.org/0000-0002-0408-5297; Lucas, Morghan C ORCID: https://orcid.org/0000-0001-7654-9137; Scholz, Veronika; Benet-Pages, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; Buren, Inga van; Breithausen, Eva; Akbari, Karl; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes ORCID: https://orcid.org/0000-0002-5053-1462; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David ORCID: https://orcid.org/0000-0002-1535-3146; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian ORCID: https://orcid.org/0000-0001-6401-2180; Leitão, Elsa; Kaya, Sabine; Depienne, Christel ORCID: https://orcid.org/0000-0002-7212-9554; Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas ORCID: https://orcid.org/0000-0002-3839-8398 und Abicht, Angela ORCID: https://orcid.org/0000-0002-2757-8131
(2025):
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0002-2620-1850; Schaub, Annalisa ORCID: https://orcid.org/0000-0002-0408-5297; Lucas, Morghan C ORCID: https://orcid.org/0000-0001-7654-9137; Scholz, Veronika; Benet-Pages, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; Buren, Inga van; Breithausen, Eva; Akbari, Karl; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes ORCID: https://orcid.org/0000-0002-5053-1462; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David ORCID: https://orcid.org/0000-0002-1535-3146; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian ORCID: https://orcid.org/0000-0001-6401-2180; Leitão, Elsa; Kaya, Sabine; Depienne, Christel ORCID: https://orcid.org/0000-0002-7212-9554; Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas ORCID: https://orcid.org/0000-0002-3839-8398 und Abicht, Angela ORCID: https://orcid.org/0000-0002-2757-8131
(2025):
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
In: Brain [Forthcoming]
Scholl, Lena-Sophie; Demleitner, Antonia F.; Riedel, Jenny; Adachi, Seren; Neuenroth, Lisa; Meijs, Clara; Tzeplaeff, Laura ORCID: https://orcid.org/0009-0003-7643-3232; Caldi Gomes, Lucas ORCID: https://orcid.org/0000-0003-4959-2169; Galhoz, Ana; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Lenz, Christof; Menden, Michael P. ORCID: https://orcid.org/0000-0003-0267-5792 und Lingor, Paul ORCID: https://orcid.org/0000-0001-9362-7096
(2025):
Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis.
In: Acta Neuropathologica Communications, Bd. 13, 187
[PDF, 5MB]
ORCID: https://orcid.org/0009-0003-7643-3232; Caldi Gomes, Lucas ORCID: https://orcid.org/0000-0003-4959-2169; Galhoz, Ana; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Lenz, Christof; Menden, Michael P. ORCID: https://orcid.org/0000-0003-0267-5792 und Lingor, Paul ORCID: https://orcid.org/0000-0001-9362-7096
(2025):
Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis.
In: Acta Neuropathologica Communications, Bd. 13, 187
[PDF, 5MB]
Schaub, Annalisa ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-0408-5297; Erdmann, Hannes ORCID: https://orcid.org/0000-0002-2620-1850; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell ORCID: https://orcid.org/0000-0002-2078-1997; Günther, Rene ORCID: https://orcid.org/0000-0003-0329-5644; Reilich, Peter ORCID: https://orcid.org/0000-0002-2464-0681; Abicht, Angela und Schöberl, Florian ORCID: https://orcid.org/0000-0002-8183-8133
(25. Juni 2024):
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
In: Journal of Neurology, Bd. 271: S. 5804-5812
[PDF, 1MB]
Luib, Elena; Demleitner, Antonia F.; Cordts, Isabell; Westenberg, Erica; Rau, Petra; Puerner, Dominik; Haller, Bernhard und Lingor, Paul
(2024):
Reduced tear fluid production in neurological diseases: a cohort study in 708 patients.
In: Journal of Neurology, Bd. 271, Nr. 4: S. 1837-1843
[PDF, 1MB]
Koch, Jan C; Leha, Andreas; Bidner, Helen; Cordts, Isabell; Dorst, Johannes; Günther, René; Zeller, Daniel; Braun, Nathalie; Metelmann, Moritz; Corcia, Philippe; Cruz, Elisa De La; Weydt, Patrick; Meyer, Thomas; Großkreutz, Julian; Soriani, Marie-Hélène; Attarian, Shahram; Weishaupt, Jochen H; Weyen, Ute; Kuttler, Josua; Zurek, Gabriela; Rogers, Mary-Louise; Feneberg, Emily; Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus und Lingor, Paul
(2024):
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS). A phase 2, randomised, double-blind, placebo-controlled trial.
In: Lancet Neurology, Bd. 23, Nr. 11: S. 1133-1146
[PDF, 849kB]
ORCID: https://orcid.org/0000-0001-6116-6790; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus und Lingor, Paul
(2024):
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS). A phase 2, randomised, double-blind, placebo-controlled trial.
In: Lancet Neurology, Bd. 23, Nr. 11: S. 1133-1146
[PDF, 849kB]
Mandler, Julia M.; Härtl, Johanna; Cordts, Isabell; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Hedderich, Dennis M.; Bafligil, Cemsel; Baki, Enayatullah; Becker, Benedikt; Machetanz, Gerrit; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Berthele, Achim; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784 und Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790
(2024):
Uncovering genetic mimics in multiple sclerosis. A single-center clinical exome sequencing study.
In: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Bd. 10, Nr. 3
[PDF, 570kB]
ORCID: https://orcid.org/0000-0002-6552-8362; Hedderich, Dennis M.; Bafligil, Cemsel; Baki, Enayatullah; Becker, Benedikt; Machetanz, Gerrit; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Berthele, Achim; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784 und Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790
(2024):
Uncovering genetic mimics in multiple sclerosis. A single-center clinical exome sequencing study.
In: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Bd. 10, Nr. 3
[PDF, 570kB]
Caldi Gomes, Lucas ORCID: https://orcid.org/0000-0003-4959-2169; Hänzelmann, Sonja ORCID: https://orcid.org/0000-0003-4953-0101; Hausmann, Fabian ORCID: https://orcid.org/0000-0001-6110-5824; Khatri, Robin ORCID: https://orcid.org/0009-0006-5311-1718; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura ORCID: https://orcid.org/0009-0003-7643-3232; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Streb, Sebastian ORCID: https://orcid.org/0000-0002-9095-6596; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter ORCID: https://orcid.org/0000-0002-7186-4653; Pasterkamp, R. Jeroen ORCID: https://orcid.org/0000-0003-1631-6440; Laczko, Endre ORCID: https://orcid.org/0000-0003-0271-3971; Rehrauer, Hubert ORCID: https://orcid.org/0000-0001-7612-9394; Schlapbach, Ralph; Carapito, Christine ORCID: https://orcid.org/0000-0002-0079-319X; Bonetto, Valentina ORCID: https://orcid.org/0000-0003-0456-2054; Bonn, Stefan und Lingor, Paul
(2024):
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
In: Nature Communications, Bd. 15, 4893
[PDF, 4MB]
ORCID: https://orcid.org/0000-0003-4959-2169; Hänzelmann, Sonja ORCID: https://orcid.org/0000-0003-4953-0101; Hausmann, Fabian ORCID: https://orcid.org/0000-0001-6110-5824; Khatri, Robin ORCID: https://orcid.org/0009-0006-5311-1718; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura ORCID: https://orcid.org/0009-0003-7643-3232; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Streb, Sebastian ORCID: https://orcid.org/0000-0002-9095-6596; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter ORCID: https://orcid.org/0000-0002-7186-4653; Pasterkamp, R. Jeroen ORCID: https://orcid.org/0000-0003-1631-6440; Laczko, Endre ORCID: https://orcid.org/0000-0003-0271-3971; Rehrauer, Hubert ORCID: https://orcid.org/0000-0001-7612-9394; Schlapbach, Ralph; Carapito, Christine ORCID: https://orcid.org/0000-0002-0079-319X; Bonetto, Valentina ORCID: https://orcid.org/0000-0003-0456-2054; Bonn, Stefan und Lingor, Paul
(2024):
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
In: Nature Communications, Bd. 15, 4893
[PDF, 4MB]
Cordts, Isabell; Wachinger, Annika; Scialo, Carlo; Lingor, Paul; Polymenidou, Magdalini; Buratti, Emanuele und Feneberg, Emily
(2023):
TDP-43 Proteinopathy Specific Biomarker Development.
In: Cells, Bd. 12, Nr. 4, 597
[PDF, 1MB]
Heinrich, Felix; 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; Radelfahr, Florentine; Schoenfelder, Erik; Gardt, Pavel; Mohajer-Peseschkian, Tara; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Schoeffski, Oliver; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2023):
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
In: Journal of Neurology, Bd. 270, Nr. 10: S. 4922-4938
[PDF, 2MB]
Haertl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David und Deschauer, Marcus
(2023):
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
In: Journal of Neurology, Bd. 270, Nr. 3: S. 1501-1511
[PDF, 779kB]
Wolff, Andreas Wolfgang; Haller, Bernhard; Demleitner, Antonia Franziska; Puerner, Dominik; Niederschweiberer, Johanna; Cordts, Isabell; Westenberg, Erica und Lingor, Paul
(2023):
Long-Lasting Impact of the COVID-19 Pandemic on Patients with Parkinson's Disease and Their Relatives.
In: Movement Disorders Clinical Practice, Bd. 10, Nr. 5: S. 819-823
[PDF, 286kB]
Cordts, Isabell; Hecker, Judith S.; Gauck, Darja; Park, Joohyun; Haertl, Johanna; Guenthner, Roman; Hammitzsch, Ariane; Schoser, Benedikt; Abeck, Dietrich; Goetze, Katharina S.; Haack, Tobias B.; Deschauer, Marcus; Moog, Philipp und Hemmer, Bernhard
(2022):
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.
In: Rheumatology, Bd. 61, Nr. 5, E117-E119
[PDF, 382kB]
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
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
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
[PDF, 7MB]
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
[PDF, 2MB]
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
[PDF, 1MB]
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