Martje Pauly

Universität zu Lübeck
Universitätsklinikum Schleswig-Holstein, Campus Lübeck
Ratzeburger Allee 160
23562 Lübeck
Email: | m.pauly(at)uni-luebeck.de |
Phone: | 0451 3101 8221 |
Fax: | 0451 3101 8225 |
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 |
Caroline
Nava,
Benjamin
Cogne,
Amandine
Santini,
Elsa
Leitão,
François
Lecoquierre,
Yuyang
Chen,
Sarah L.
Stenton,
Thomas
Besnard,
Solveig
Heide,
Sarah
Baer,
Abhilasha
Jakhar,
Sonja
Neuser,
Boris
Keren,
Anne
Faudet,
Sylvie
Forlani,
Marie
Faoucher,
Kevin
Uguen,
Konrad
Platzer,
Alexandra
Afenjar,
Jean-Luc
Alessandri,
Stephanie
Andres,
Chloé
Angelini,
Bernard
Aral,
Benoit
Arveiler,
Tania
Attie-Bitach,
Marion
Aubert Mucca,
Guillaume
Banneau,
Tahsin Stefan
Barakat,
Giulia
Barcia,
Stéphanie
Baulac,
Claire
Beneteau,
Fouzia
Benkerdou,
Virginie
Bernard,
Stéphane
Bézieau,
Dominique
Bonneau,
Marie-Noelle
Bonnet-Dupeyron,
Simon
Boussion,
Odile
Boute,
Elise
Brischoux-Boucher,
Samantha J.
Bryen,
Julien
Buratti,
Tiffany
Busa,
Almuth
Caliebe,
Yline
Capri,
Kévin
Cassinari,
Roseline
Caumes,
Camille
Cenni,
Pascal
Chambon,
Perrine
Charles,
John
Christodoulou,
Cindy
Colson,
Solène
Conrad,
Auriane
Cospain,
Juliette
Coursimault,
Thomas
Courtin,
Madeline
Couse,
Charles
Coutton,
Isabelle
Creveaux,
Alissa M.
D’Gama,
Benjamin
Dauriat,
Jean-Madeleine
de Sainte Agathe,
Giulia
Del Gobbo,
Andrée
Delahaye-Duriez,
Julian
Delanne,
Anne-Sophie
Denommé-Pichon,
Anne
Dieux-Coeslier,
Laura
Do Souto Ferreira,
Martine
Doco-Fenzy,
Stephan
Drukewitz,
Véronique
Duboc,
Christèle
Dubourg,
Yannis
Duffourd,
David
Dyment,
Salima
El Chehadeh,
Monique
Elmaleh,
Laurence
Faivre,
Samuel
Fennelly,
Hanna
Fischer,
Mélanie
Fradin,
Camille
Galludec Vaillant,
Benjamin
Ganne,
Jamal
Ghoumid,
Himanshu
Goel,
Zeynep
Gokce-Samar,
Alice
Goldenberg,
Romain
Gonfreville Robert,
Svetlana
Gorokhova,
Louise
Goujon,
Victoria
Granier,
Mathilde
Gras,
John M.
Greally,
Bianca
Greiten,
Paul
Gueguen,
Anne-Marie
Guerrot,
Saurav
Guha,
Anne
Guimier,
Tobias B.
Haack,
Hamza
Hadj Abdallah,
Yosra
Halleb,
Radu
Harbuz,
Madeleine
Harris,
Julia
Hentschel,
Bénédicte
Héron,
Marc-Phillip
Hitz,
A. Micheil
Innes,
Vincent
Jadas,
Louis
Januel,
Nolwenn
Jean-Marçais,
Vaidehi
Jobanputra,
Florence
Jobic,
Ludmila
Jornea,
Céline
Jost,
Sophie
Julia,
Frank J.
Kaiser,
Daniel
Kaschta,
Sabine
Kaya,
Petra
Ketteler,
Bochra
Khadija,
Fabian
Kilpert,
Cordula
Knopp,
Florian
Kraft,
Ilona
Krey,
Marilyn
Lackmy,
Fanny
Laffargue,
Laetitia
Lambert,
Ryan
Lamont,
Vincent
Laugel,
Steven
Laurie,
Julie L.
Lauzon,
Louis
Lebreton,
Marine
Lebrun,
Marine
Legendre,
Eric
Leguern,
Daphné
Lehalle,
Elodie
Lejeune,
Gaetan
Lesca,
Marion
Lesieur-Sebellin,
Jonathan
Levy,
Agnès
Linglart,
Stanislas
Lyonnet,
Kevin
Lüthy,
Alan S.
Ma,
Corinne
Mach,
Jean-Louis
Mandel,
Lamisse
Mansour-Hendili,
Julien
Marcadier,
Victor
Marin,
Henri
Margot,
Valentine
Marquet,
Angèle
May,
Johannes A.
Mayr,
Catherine
Meridda,
Vincent
Michaud,
Caroline
Michot,
Gwenael
Nadeau,
Sophie
Naudion,
Laetitia
Nguyen,
Mathilde
Nizon,
Frédérique
Nowak,
Sylvie
Odent,
Valerie
Olin,
Ikeoluwa A.
Osei-Owusu,
Matthew
Osmond,
Katrin
Õunap,
Laurent
Pasquier,
Sandrine
Passemard,
Martje G.
Pauly,
Olivier
Patat,
Marine
Pensec,
Laurence
Perrin-Sabourin,
Florence
Petit,
Christophe
Philippe,
Marc
Planes,
Annapurna
Poduri,
Céline
Poirsier,
Antoine
Pouzet,
Bradley
Prince,
Clément
Prouteau,
Aurora
Pujol,
Caroline
Racine,
Mélanie
Rama,
Francis
Ramond,
Kara
Ranguin,
Margaux
Raway,
André
Reis,
Mathilde
Renaud,
Nicole
Revencu,
Anne-Claire
Richard,
Lucile
Riera-Navarro,
Rocio
Rius,
Diana
Rodriguez,
Agustí
Rodriguez-Palmero,
Sophie
Rondeau,
Annika
Roser-Unruh,
Christelle
Rougeot Jung,
Hana
Safraou,
Véronique
Satre,
Pascale
Saugier-Veber,
Clément
Sauvestre,
Elise
Schaefer,
Wanqing
Shao,
Ina
Schanze,
Jan-Ulrich
Schlump,
Agatha
Schlüter Martin,
Caroline
Schluth-Bolard,
Sarah
Schuhmann,
Christopher
Schröder,
Monisha
Sebastin,
Sabine
Sigaudy,
Malte
Spielmann,
Marta
Spodenkiewicz,
Laura
St Clair,
Julie
Steffann,
Radka
Stoeva,
Harald
Surowy,
Mark A.
Tarnopolsky,
Calina
Todosi,
Annick
Toutain,
Frédéric
Tran Mau-Them,
Astrid
Unterlauft,
Julien
Van-Gils,
Clémence
Vanlerberghe,
Georgia
Vasileiou,
Gabriella
Vera,
André
Verdel,
Alain
Verloes,
Yoann
Vial,
Cédric
Vignal,
Marie
Vincent,
Catherine
Vincent-Delorme,
Aline
Vincent-Devulder,
Antonio
Vitobello,
Sacha
Weber,
Marjolaine
Willems,
Khaoula
Zaafrane-Khachnaoui,
Pia
Zacher,
Lena
Zeltner,
Alban
Ziegler,
Wojciech P.
Galej,
Hélène
Dollfus,
Christel
Thauvin,
Kym M.
Boycott,
Pierre
Marijon,
Alban
Lermine,
Valérie
Malan,
Marlène
Rio,
Alma
Kuechler,
Bertrand
Isidor,
Séverine
Drunat,
Thomas
Smol,
Nicolas
Chatron,
Amélie
Piton,
Gael
Nicolas,
Matias
Wagner,
Rami
Abou Jamra,
Delphine
Héron,
Cyril
Mignot,
Pierre
Blanc,
Anne
O’Donnell-Luria,
Nicola
Whiffin,
Camille
Charbonnier,
Clément
Charenton,
Julien
Thevenon, and
Christel
Depienne,
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption, Nat Genet , vol. 57, no. 6, pp. 1374–1388, 2025.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption, Nat Genet , vol. 57, no. 6, pp. 1374–1388, 2025.
DOI: | 10.1038/s41588-025-02184-4 |
Ann-Sophie
Kiesel,
Lucia
Laugwitz,
Rebecca
Buchert,
Mona
Grimmel,
Sarah
Baumann,
Marc
Sturm,
Selina
Reich,
Martje G.
Pauly,
Norbert
Brüggemann,
Alexander
Münchau,
Olga
Oleksiuk,
Matthis
Synofzik,
Tobias B.
Haack, and
Susana
Peralta,
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders, Brain , vol. 148, no. 4, pp. e24–e28, 2025.
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders, Brain , vol. 148, no. 4, pp. e24–e28, 2025.
DOI: | 10.1093/brain/awae402 |
Steven
Laurie,
Wouter
Steyaert,
Elke
de Boer,
Kiran
Polavarapu,
Nika
Schuermans,
Anna K.
Sommer,
German
Demidov,
Kornelia
Ellwanger,
Ida
Paramonov,
Coline
Thomas,
Stefan
Aretz,
Jonathan
Baets,
Elisa
Benetti,
Gemma
Bullich,
Patrick F.
Chinnery,
Jill
Clayton-Smith,
Enzo
Cohen,
Daniel
Danis,
Jean-Madeleine
de Sainte Agathe,
Anne-Sophie
Denommé-Pichon,
Jordi
Diaz-Manera,
Stephanie
Efthymiou,
Laurence
Faivre,
Marcos
Fernandez-Callejo,
Mallory
Freeberg,
José
Garcia-Pelaez,
Léna
Guillot-Noel,
Tobias B.
Haack,
Mike
Hanna,
Holger
Hengel,
Rita
Horvath,
Henry
Houlden,
Adam
Jackson,
Lennart
Johansson,
Mridul
Johari,
Erik-Jan
Kamsteeg,
Melanie
Kellner,
Tjitske
Kleefstra,
Didier
Lacombe,
Hanns
Lochmuller,
Estrella
López-Martín,
Alfons
Macaya,
Anna
Marcé-Grau,
Aleš
Maver,
Heba
Morsy,
Francesco
Muntoni,
Francesco
Musacchia,
Isabelle
Nelson,
Vincenzo
Nigro,
Catarina
Olimpio,
Carla
Oliveira,
Jaroslava
Paulasová Schwabová,
Martje G.
Pauly,
Borut
Peterlin,
Sophia
Peters,
Rolph
Pfundt,
Giulio
Piluso,
Davide
Piscia,
Manuel
Posada,
Selina
Reich,
Alessandra
Renieri,
Lukas
Ryba,
Karolis
Sablauskas,
Marco
Savarese,
Ludger
Schöls,
Leon
Schütz,
Verena
Steinke-Lange,
Giovanni
Stevanin,
Volker
Straub,
Marc
Sturm,
Morris A.
Swertz,
Marco
Tartaglia,
Iris B. A. W.
Te Paske,
Rachel
Thompson,
Annalaura
Torella,
Christina
Trainor,
Bjarne
Udd,
Liedewei
Van de Vondel,
Bart
van de Warrenburg,
Jeroen
van Reeuwijk,
Jana
Vandrovcova,
Antonio
Vitobello,
Janet
Vos,
Emílie
Vyhnálková,
Robin
Wijngaard,
Carlo
Wilke,
Doreen
William,
Jishu
Xu,
Burcu
Yaldiz,
Luca
Zalatnai,
Birte
Zurek,
[GROUP]
Solve-RD DITF-GENTURIS,
[GROUP]
Solve-RD DITF-ITHACA,
[GROUP]
Solve-RD DITF-EURO-NMD,
[GROUP]
Solve-RD DITF-RND,
[GROUP]
Solve-RD Consortium,
Anthony J.
Brookes,
Teresinha
Evangelista,
Christian
Gilissen,
Holm
Graessner,
Nicoline
Hoogerbrugge,
Stephan
Ossowski,
Olaf
Riess,
Rebecca
Schüle,
Matthis
Synofzik,
Alain
Verloes,
Leslie
Matalonga,
Han G.
Brunner,
Katja
Lohmann,
Richarda M.
de Voer,
Ana
Töpf,
Lisenka E. L. M.
Vissers,
Sergi
Beltran, and
Alexander
Hoischen,
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses, Nat Med , 2025.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses, Nat Med , 2025.
DOI: | 10.1038/s41591-024-03420-w |
Steven
Laurie,
Wouter
Steyaert,
Elke
de Boer,
Kiran
Polavarapu,
Nika
Schuermans,
Anna K.
Sommer,
German
Demidov,
Kornelia
Ellwanger,
Ida
Paramonov,
Coline
Thomas,
Stefan
Aretz,
Jonathan
Baets,
Elisa
Benetti,
Gemma
Bullich,
Patrick F.
Chinnery,
Jill
Clayton-Smith,
Enzo
Cohen,
Daniel
Danis,
Jean-Madeleine
de Sainte Agathe,
Anne-Sophie
Denommé-Pichon,
Jordi
Diaz-Manera,
Stephanie
Efthymiou,
Laurence
Faivre,
Marcos
Fernandez-Callejo,
Mallory
Freeberg,
José
Garcia-Pelaez,
Léna
Guillot-Noel,
Tobias B.
Haack,
Mike
Hanna,
Holger
Hengel,
Rita
Horvath,
Henry
Houlden,
Adam
Jackson,
Lennart
Johansson,
Mridul
Johari,
Erik-Jan
Kamsteeg,
Melanie
Kellner,
Tjitske
Kleefstra,
Didier
Lacombe,
Hanns
Lochmuller,
Estrella
López-Martín,
Alfons
Macaya,
Anna
Marcé-Grau,
Aleš
Maver,
Heba
Morsy,
Francesco
Muntoni,
Francesco
Musacchia,
Isabelle
Nelson,
Vincenzo
Nigro,
Catarina
Olimpio,
Carla
Oliveira,
Jaroslava
Paulasová Schwabová,
Martje G.
Pauly,
Borut
Peterlin,
Sophia
Peters,
Rolph
Pfundt,
Giulio
Piluso,
Davide
Piscia,
Manuel
Posada,
Selina
Reich,
Alessandra
Renieri,
Lukas
Ryba,
Karolis
Sablauskas,
Marco
Savarese,
Ludger
Schöls,
Leon
Schütz,
Verena
Steinke-Lange,
Giovanni
Stevanin,
Volker
Straub,
Marc
Sturm,
Morris A.
Swertz,
Marco
Tartaglia,
Iris B. A. W.
Te Paske,
Rachel
Thompson,
Annalaura
Torella,
Christina
Trainor,
Bjarne
Udd,
Liedewei
Van de Vondel,
Bart
van de Warrenburg,
Jeroen
van Reeuwijk,
Jana
Vandrovcova,
Antonio
Vitobello,
Janet
Vos,
Emílie
Vyhnálková,
Robin
Wijngaard,
Carlo
Wilke,
Doreen
William,
Jishu
Xu,
Burcu
Yaldiz,
Luca
Zalatnai,
Birte
Zurek,
[GROUP]
Solve-RD DITF-GENTURIS,
[GROUP]
Solve-RD DITF-ITHACA,
[GROUP]
Solve-RD DITF-EURO-NMD,
[GROUP]
Solve-RD DITF-RND,
[GROUP]
Solve-RD Consortium,
Anthony J.
Brookes,
Teresinha
Evangelista,
Christian
Gilissen,
Holm
Graessner,
Nicoline
Hoogerbrugge,
Stephan
Ossowski,
Olaf
Riess,
Rebecca
Schüle,
Matthis
Synofzik,
Alain
Verloes,
Leslie
Matalonga,
Han G.
Brunner,
Katja
Lohmann,
Richarda M.
de Voer,
Ana
Töpf,
Lisenka E. L. M.
Vissers,
Sergi
Beltran, and
Alexander
Hoischen,
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses, Nat Med , vol. 31, no. 2, pp. 478–489, 2025.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses, Nat Med , vol. 31, no. 2, pp. 478–489, 2025.
DOI: | 10.1038/s41591-024-03420-w |
Martje G.
Pauly,
Mirja
Thomsen,
Vera
Tadic,
Hauke
Busch,
Christel
Depienne,
Katja
Lohmann,
Christine
Klein, and
Norbert
Brüggemann,
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia, Parkinsonism Relat Disord , vol. 131, pp. 107260, 2025.
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia, Parkinsonism Relat Disord , vol. 131, pp. 107260, 2025.
DOI: | 10.1016/j.parkreldis.2025.107260 |
Martje G.
Pauly,
Mirja
Thomsen,
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