Lucia Laugwitz - Publications, H-index & Citations

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Lucia Laugwitz

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17H-index

52Paper Count

713Citation Count

Published Papers 23

Publication Date

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS

Journal of Chromatography B

IF0

2026-05-04

OAAI

Joachim Janda; Friederike Bürger; Stefanie Geiger; Mareike Hasselbach; Lucia Laugwitz; Georg F. Hoffmann; Jürgen G. Okun

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Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review

International Journal of Neonatal Screening

IF4

2026-03-03

OAAI

Lucia Laugwitz; Andrew Shenker; Erica F. Sluys; Stéphane Pintat; David Whiteman; Charlotte Chanson

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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

Nature Communications

IF15.7

2026-02-14

OAAI

Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack

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ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

Journal of Inherited Metabolic Disease

IF3.8

2025-08-02

OAAI

Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf

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Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

ANALYTICA CHIMICA ACTA

IF6

2025-05-01

OAAI

van der Ham, Maria; van Konijnenburg, Eva Hoytema; van Rossum, Wouter; Gerrits, Johan; van Hasselt, Peter; Prinsen, Hubertus; Jans, Judith; Schlotawa, Lars; Laugwitz, Lucia; de Sain-van der Velden, Monique

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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-01-01

OAAI

Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B.

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Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

PROTEIN & CELL

IF12.8

2024-11-28

OAAI

Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca

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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2024-10-03

PREAI

Laugwitz, Lucia; Mechtler, Thomas P.; Janzen, Nils; Oliva, Petra; Kasper, Andrea-Romana; Teunissen, Charlotte E.; Buerger, Friederike; Janda, Joachim; Doering, Michaela; Weitz, Marcus; Lang, Peter; Martin, Pascal; Beck-Woedl, Stefanie; Chanson, Charlotte; Essing, Mirko M.; Shenker, Andrew; Haack, Tobias B.; Schulte, Johannes H.; Rosewich, Hendrik; Streubel, Berthold; Kasper, David C.; Groesche, Samuel

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Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

DISEASE MODELS & MECHANISMS

IF3.3

2024-07-22

OAAI

Kagermeier, Theresa; Hauser, Stefan; Sarieva, Kseniia; Laugwitz, Lucia; Groeschel, Samuel; Janzarik, Wibke G.; Yentuer, Zeynep; Becker, Katharina; Schoels, Ludger; Kraegeloh-Mann, Ingeborg; Mayer, Simone

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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

CYTOTHERAPY

IF3.2

2024-07-01

PREAI

Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline

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Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-06-04

OAAI

Maechtel, Rebecca; Dobert, Jan-Philipp; Hehr, Ute; Weiss, Alexander; Kettwig, Matthias; Laugwitz, Lucia; Groeschel, Samuel; Schmidt, Manuel; Arnold, Philipp; Regensburger, Martin; Zunke, Friederike

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

BRAIN

IF11.7

2024-02-22

OAAI

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B.

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Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

ANTIOXIDANTS

IF6.6

2023-03-14

OAAI

Muench, Juliane; Prasuhn, Jannik; Laugwitz, Lucia; Fung, Cheuk-Wing; Chung, Brian H. -Y.; Bellusci, Marcello; Mayatepek, Ertan; Klee, Dirk; Distelmaier, Felix

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges (vol 137, pg 273, 2022)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-01

OAAI

Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia

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MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation

NEUROIMAGE-CLINICAL

IF3.6

2023-01-01

OAAI

Feldmann, Joana; Martin, Pascal; Bender, Benjamin; Laugwitz, Lucia; Zizmare, Laimdota; Trautwein, Christoph; Krageloh-Mann, Ingeborg; Klose, Uwe; Groeschel, Samuel

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-11-01

OAAI

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-09-01

OAAI

Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry

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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

MOVEMENT DISORDERS

IF7.6

2022-09-01

OAAI

Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus

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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-10-16

OAAI

Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

GENETICS IN MEDICINE

IF6.2

2020-11-01

OAAI

Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian

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Research Directions