Publikationen
2025
Axel
Schmidt,
Magdalena
Danyel,
Kathrin
Grundmann,
Theresa
Brunet,
Hannah
Klinkhammer,
Tzung-Chien
Hsieh,
Hartmut
Engels,
Sophia
Peters,
Alexej
Knaus,
Shahida
Moosa,
Luisa
Averdunk,
Felix
Boschann,
Henrike Lisa
Sczakiel,
Sarina
Schwartzmann,
Martin Atta
Mensah,
Jean Tori
Pantel,
Manuel
Holtgrewe,
Annemarie
Bösch,
Claudia
Weiß,
Natalie
Weinhold,
Aude-Annick
Suter,
Corinna
Stoltenburg,
Julia
Neugebauer,
Tillmann
Kallinich,
Angela M.
Kaindl,
Susanne
Holzhauer,
Christoph
Bührer,
Philip
Bufler,
Uwe
Kornak,
Claus-Eric
Ott,
Markus
Schülke,
Hoa Huu Phuc
Nguyen,
Sabine
Hoffjan,
Corinna
Grasemann,
Tobias
Rothoeft,
Folke
Brinkmann,
Nora
Matar,
Sugirthan
Sivalingam,
Claudia
Perne,
Elisabeth
Mangold,
Martina
Kreiss,
Kirsten
Cremer,
Regina C.
Betz,
Martin
Mücke,
Lorenz
Grigull,
Thomas
Klockgether,
Isabel
Spier,
André
Heimbach,
Tim
Bender,
Fabian
Brand,
Christiane
Stieber,
Alexandra Marzena
Morawiec,
Pantelis
Karakostas,
Valentin S.
Schäfer,
Sarah
Bernsen,
Patrick
Weydt,
Sergio
Castro-Gomez,
Ahmad
Aziz,
Marcus
Grobe-Einsler,
Okka
Kimmich,
Xenia
Kobeleva,
Demet
Önder,
Hellen
Lesmann,
Sheetal
Kumar,
Pawel
Tacik,
Meghna Ahuja
Bhasin,
Pietro
Incardona,
Min Ae
Lee-Kirsch,
Reinhard
Berner,
Catharina
Schuetz,
Julia
Körholz,
Tanita
Kretschmer,
Nataliya
Di Donato,
Evelin
Schröck,
André
Heinen,
Ulrike
Reuner,
Amalia-Mihaela
Hanßke,
Frank J.
Kaiser,
Eva
Manka,
Martin
Munteanu,
Alma
Kuechler,
Kiewert
Cordula,
Raphael
Hirtz,
Elena
Schlapakow,
Christian
Schlein,
Jasmin
Lisfeld,
Christian
Kubisch,
Theresia
Herget,
Maja
Hempel,
Christina
Weiler-Normann,
Kurt
Ullrich,
Christoph
Schramm,
Cornelia
Rudolph,
Franziska
Rillig,
Maximilian
Groffmann,
Ania
Muntau,
Alexandra
Tibelius,
Eva M. C.
Schwaibold,
Christian P.
Schaaf,
Michal
Zawada,
Lilian
Kaufmann,
Katrin
Hinderhofer,
Pamela M.
Okun,
Urania
Kotzaeridou,
Georg F.
Hoffmann,
Daniela
Choukair,
Markus
Bettendorf,
Malte
Spielmann,
Annekatrin
Ripke,
Martje G.
Pauly,
Alexander
Münchau,
Katja
Lohmann,
Irina
Hüning,
Britta
Hanker,
Tobias
Bäumer,
Rebecca
Herzog,
Yorck
Hellenbroich,
Dominik S.
Westphal,
Tim
Strom,
Reka
Kovacs,
Korbinian M.
Riedhammer,
Katharina
Mayerhanser,
Elisabeth
Graf,
Melanie
Brugger,
Julia
Hoefele,
Konrad
Oexle,
Nazanin
Mirza-Schreiber,
Riccardo
Berutti,
Ulrich
Schatz,
Martin
Krenn,
Christine
Makowski,
Heike
Weigand,
Sebastian
Schröder,
Meino
Rohlfs,
Katharina
Vill,
Fabian
Hauck,
Ingo
Borggraefe,
Wolfgang
Müller-Felber,
Ingo
Kurth,
Miriam
Elbracht,
Cordula
Knopp,
Matthias
Begemann,
Florian
Kraft,
Johannes R.
Lemke,
Julia
Hentschel,
Konrad
Platzer,
Vincent
Strehlow,
Rami
Abou Jamra,
Martin
Kehrer,
German
Demidov,
Stefanie
Beck-Wödl,
Holm
Graessner,
Marc
Sturm,
Lena
Zeltner,
Ludger J.
Schöls,
Janine
Magg,
Andrea
Bevot,
Christiane
Kehrer,
Nadja
Kaiser,
Ernest
Turro,
Denise
Horn,
Annette
Grüters-Kieslich,
Christoph
Klein,
Stefan
Mundlos,
Markus
Nöthen,
Olaf
Riess,
Thomas
Meitinger,
Heiko
Krude,
Peter M.
Krawitz,
Tobias
Haack,
Nadja
Ehmke, and
Matias
Wagner,
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings, Nat Genet , vol. 57, no. 7, pp. 1790–1791, 2025.
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings, Nat Genet , vol. 57, no. 7, pp. 1790–1791, 2025.
| DOI: | 10.1038/s41588-025-02271-6 |
Rica
Schulze,
Roland
Stenger,
Sebastian
Löns,
Tobias
Bäumer, and
Sebastian
Fudickar,
Usability and adherence evaluation of a smartphone app for home-based symptom monitoring of cervical dystonia, Digit Health , vol. 11, pp. 20552076251344515, 2025.
Usability and adherence evaluation of a smartphone app for home-based symptom monitoring of cervical dystonia, Digit Health , vol. 11, pp. 20552076251344515, 2025.
| DOI: | 10.1177/20552076251344515 |
Mirja
Thomsen,
Fabian
Ott,
Sebastian
Löns,
Gamze
Kilic-Berkmen,
Ai Huey
Tan,
Shen-Yang
Lim,
Ebba
Lohmann,
Kaja M.
Schröder,
Lea
Ipsen,
Lena A.
Nothacker,
Linn
Welzel,
Alexandra S.
Rudnik,
Frauke
Hinrichs,
Thorsten
Odorfer,
Kirsten E.
Zeuner,
Friederike
Schumann,
Andrea A.
Kühn,
Simone
Zittel,
Marius
Moeller,
Robert
Pfister,
Christoph
Kamm,
Anthony E.
Lang,
Yi Wen
Tay,
Ana Luísa
de Almeida Marcelino,
Marie
Vidailhet,
Emmanuel
Roze,
Joel S.
Perlmutter,
Jeanne S.
Feuerstein,
Victor S. C.
Fung,
Florence
Chang,
Richard L.
Barbano,
Steven
Bellows,
Aparna A.
Wagle Shukla,
Alberto J.
Espay,
Mark S.
LeDoux,
Brian D.
Berman,
Stephen
Reich,
Andres
Deik,
Andre
Franke,
Michael
Wittig,
Sören
Franzenburg,
Jens
Volkmann,
Norbert
Brüggemann,
H. A.
Jinnah,
Tobias
Bäumer,
Christine
Klein,
Hauke
Busch, and
Katja
Lohmann,
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing, Ann Clin Transl Neurol , vol. 12, no. 8, pp. 1648–1659, 2025.
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing, Ann Clin Transl Neurol , vol. 12, no. 8, pp. 1648–1659, 2025.
| DOI: | 10.1002/acn3.70100 |
María I.
Vanegas,
Anna
Marcé-Grau,
Ana
Cazurro-Gutiérrez,
Feline
Hamami,
Elze R.
Timmers,
Anne
Weissbach,
Marina A. J.
Tijssen,
Victoria
González,
Lucía Dougherty-de
Miguel,
Marina
Martin,
Monika
Benson,
Carola
Reinhard, and
Belen
Perez-Dueñas,
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey, Mov Disord Clin Pract , vol. 12, no. 7, pp. 957–968, 2025.
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey, Mov Disord Clin Pract , vol. 12, no. 7, pp. 957–968, 2025.
| DOI: | 10.1002/mdc3.70028 |
Ana
Westenberger,
Edgard
Verdura,
Mandy
Radefeldt,
Leslie E.
Sanderson,
Kornelia
Tripolszki,
Anna
Marcé-Grau,
Ana
Cazurro-Gutiérrez,
Anita
Nikoncuk,
Rebecca
Herzog,
Ruslan
Al-Ali,
Mariana
Ferreira,
Ligia S.
Almeida,
Tainá Regina Damaceno
Silveira,
Suliman
Khan,
Raphael Doyle
Maia,
Peter
Klivenyi,
András
Salamon,
Volkan
Baltaci,
Asli
Subasioglu,
Jeanette
Prada-Arismendy,
Goran
Čuturilo,
Sebastian
Löns,
Vera
Tadic,
Isabelle
Maystadt,
Deniz
Karadurmus,
Barbara
Leube,
Jonathan
De Winter,
Alice
Monticelli,
Liesbeth
De Waele,
Jonathan
Baets,
Mateja
Vinkšel,
Aleš
Maver,
Lorena
Tschopp,
Gabriela
Ziegler,
Ana
Sanguinetti,
Katja
Lohmann,
Tahsin Stefan
Barakat,
Peter
Bauer,
Belen
Perez-Dueñas, and
Aida M.
Bertoli-Avella,
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants, Mov Disord , 2025.
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants, Mov Disord , 2025.
| DOI: | 10.1002/mds.70089 |
Keit Men
Wong,
Reza
Maroofian,
Kolja
Meier,
Susann
Diegmann,
Tinatin
Tkemaladze,
Javeria Raza
Alvi,
Behnoosh
Tasharrofi,
Stephanie
Efthymiou,
Alexander
Münchau,
G. Christoph
Korenke,
Naif
Almontashiri,
Wafaa
Eyaid,
Amna
Kashgari,
Modhi
Alotaibi,
Jutta
Gärtner,
Brenda
Huppke,
Mostafa
Asadollahi,
Gocha
Chikvinidze,
Mohammad
Keramatipour,
Tipu
Sultan,
Holger
Thiele,
Peter
Nürnberg,
Markus H.
Gräler,
Henry
Houlden, and
Peter
Huppke,
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis, Mov Disord , vol. 40, no. 9, pp. 1836–1850, 2025.
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis, Mov Disord , vol. 40, no. 9, pp. 1836–1850, 2025.
| DOI: | 10.1002/mds.30258 |

