Juliane Winkelmann

2024

A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice

Leu, C. L., Lam, D. D., Salminen, A. V., Wefers, B., Becker, L., Garrett, L., Rozman, J., Wurst, W., de Angelis, M. H., Hölter, S. M., Winkelmann, J. & Williams, R. H., 1 May 2024, In: Sleep. 47, 5

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

Brugger, M., Lauri, A., Zhen, Y., Gramegna, L. L., Zott, B., Sekulić, N., Fasano, G., Kopajtich, R., Cordeddu, V., Radio, F. C., Mancini, C., Pizzi, S., Paradisi, G., Zanni, G., Vasco, G., Carrozzo, R., Palombo, F., Tonon, C., Lodi, R. & La Morgia, C. & 20 others, Arelin, M., Blechschmidt, C., Finck, T., Sørensen, V., Kreiser, K., Strobl-Wildemann, G., Daum, H., Michaelson-Cohen, R., Ziccardi, L., Zampino, G., Prokisch, H., Abou Jamra, R., Fiorini, C., Arzberger, T., Winkelmann, J., Caporali, L., Carelli, V., Stenmark, H., Tartaglia, M. & Wagner, M., 7 Mar 2024, In: American Journal of Human Genetics. 111, 3, p. 594-613 20 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Sorrentino, U., Boesch, S., Doummar, D., Ravelli, C., Serranova, T., Indelicato, E., Winkelmann, J., Burglen, L., Jech, R. & Zech, M., May 2024, In: Journal of Neurology. 271, 5, p. 2859-2865 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

Indelicato, E., Boesch, S., Mencacci, N. E., Ghezzi, D., Prokisch, H., Winkelmann, J. & Zech, M., Jan 2024, In: Movement Disorders. 39, 1, p. 29-35 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Epigenome-wide association study of dietary fatty acid intake

Lange de Luna, J., Nounu, A., Neumeyer, S., Sinke, L., Wilson, R., Hellbach, F., Matías-García, P. R., Delerue, T., Winkelmann, J., Peters, A., Thorand, B., Beekman, M., Heijmans, B. T., Slagboom, E., Gieger, C., Linseisen, J. & Waldenberger, M., Dec 2024, In: Clinical Epigenetics. 16, 1, 29.

Research output: Contribution to journal › Article › peer-review

Open Access

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

Laabs, B. H., Lohmann, K., Vollstedt, E. J., Reinberger, T., Nuxoll, L. M., Kilic-Berkmen, G., Perlmutter, J. S., Loens, S., Cruchaga, C., Franke, A., Dobricic, V., Hinrichs, F., Grözinger, A., Altenmüller, E., Bellows, S., Boesch, S., Bressman, S. B., Duque, K. R., Espay, A. J. & Ferbert, A. & 38 others, Feuerstein, J. S., Frank, S., Gasser, T., Haslinger, B., Jech, R., Kaiser, F., Kamm, C., Kollewe, K., Kühn, A. A., LeDoux, M. S., Lohmann, E., Mahajan, A., Münchau, A., Multhaupt-Buell, T., Pantelyat, A., Pirio Richardson, S. E., Raymond, D., Reich, S. G., Saunders Pullman, R., Schormair, B., Sharma, N., Sichani, A. H., Simonyan, K., Volkmann, J., Wagle Shukla, A., Winkelmann, J., Wright, L. J., Zech, M., Zeuner, K. E., Zittel, S., Kasten, M., Sun, Y. V., Bäumer, T., Brüggemann, N., Ozelius, L. J., Jinnah, H. A., Klein, C. & König, I. R., 2024, (Accepted/In press) In: Movement Disorders.

Research output: Contribution to journal › Article › peer-review

Open Access

Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction

23andMe Research Team & D.E.S.I.R. study group, 1 Jun 2024, In: Nature Genetics. 56, 6, p. 1090-1099 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Blackburn, P. R., Ebstein, F., Hsieh, T. C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A. M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, J., Jech, R., Winkelmann, J., Koprušáková, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C. F., Lerner-Ellis, J., DiTroia, S., Barth, M., Bonneau, D., Krapels, I., Stegmann, A. P. A., van der Schoot, V., Brunet, T., Bußmann, C., Mignot, C., Zampino, G., Wortmann, S. B., Mayr, J. A., Feichtinger, R. G., Courtin, T., Ravelli, C., Keren, B., Ziegler, A., Hasadsri, L., Pichurin, P. N., Klee, E. W., Grand, K., Sanchez-Lara, P. A., Krüger, E., Bézieau, S., Klinkhammer, H., Krawitz, P. M., Eichler, E. E., Tartaglia, M., Küry, S. & Wang, T., 2024, (Accepted/In press) In: Annals of Neurology.

Research output: Contribution to journal › Article › peer-review

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant

Sorrentino, U., Romito, L. M., Garavaglia, B., Fichera, M., Colangelo, I., Prokisch, H., Winkelmann, J., Necpal, J., Jech, R. & Zech, M., 2024, In: Tremor and Other Hyperkinetic Movements. 14, 1, 16.

Research output: Contribution to journal › Article › peer-review

Open Access

Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration – A transdiagnostic study cross-validating atrophy and fluid biomarkers

FTLD Consortium Germany, Jul 2024, In: Alzheimer's and Dementia. 20, 7, p. 4461-4475 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Next-generation sequencing and bioinformatics in rare movement disorders

Zech, M. & Winkelmann, J., Feb 2024, In: Nature Reviews Neurology. 20, 2, p. 114-126 13 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

Krenn, M., Wagner, M., Zulehner, G., Weng, R., Jäger, F., Keritam, O., Sener, M., Brücke, C., Milenkovic, I., Langer, A., Buchinger, D., Habersam, R., Mayerhanser, K., Brugger, M., Brunet, T., Jacob, M., Graf, E., Berutti, R., Cetin, H. & Hoefele, J. & 3 others, Winkelmann, J., Zimprich, F. & Rath, J., Apr 2024, In: Journal of Neurology. 271, 4, p. 1937-1946 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity

Harrer, P., Inderhees, J., Zhao, C., Schormair, B., Tilch, E., Gieger, C., Peters, A., Jöhren, O., Fleming, T., Nawroth, P. P., Berger, K., Hermesdorf, M., Winkelmann, J., Schwaninger, M. & Oexle, K., Mar 2024, In: eBioMedicine. 101, 105007.

Research output: Contribution to journal › Article › peer-review

Open Access

Spatial enhancer activation influences inhibitory neuron identity during mouse embryonic development

Dvoretskova, E., Ho, M. C., Kittke, V., Neuhaus, F., Vitali, I., Lam, D. D., Delgado, I., Feng, C., Torres, M., Winkelmann, J. & Mayer, C., May 2024, In: Nature Neuroscience. 27, 5, p. 862-872 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome

Stehr, A. M., Koeglsperger, T., Jacob, M., Rhodio, V., Winkelmann, J., Hopfner, F. & Zech, M., 2024, In: Tremor and Other Hyperkinetic Movements. 14, p. 48 1 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla, Á. G., Jang, S. S., Juliá-Palacios, N., Keren, B., Kopajtich, R., Lynch, S. A., Mignot, C., Moorwood, C., Neuhofer, C., Nigro, V., Oostra, A., Prokisch, H., Saillour, V., Schuermans, N. & Torella, A. & 9 others, Verloo, P., Yazbeck, E., Zollino, M., Jech, R., Winkelmann, J., Necpal, J., Calì, T., Brini, M. & Zech, M., Dec 2023, In: Genetics in Medicine. 25, 12, 100971.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease

Seyedtaghia, M. R., Soudyab, M., Shariati, M., Esfehani, R. J., Vafadar, S., Shalaei, N., Nouri, V., Zech, M., Winkelmann, J., shoeibi, A. & Sadr-Nabavi, A., Apr 2023, In: Heliyon. 9, 4, e15393.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis

Keshawarz, A., Joehanes, R., Ma, J., Lee, G. Y., Costeira, R., Tsai, P. C., Masachs, O. M., Bell, J. T., Wilson, R., Thorand, B., Winkelmann, J., Peters, A., Linseisen, J., Waldenberger, M., Lehtimäki, T., Mishra, P. P., Kähönen, M., Raitakari, O., Helminen, M. & Wang, C. A. & 14 others, Melton, P. E., Huang, R. C., Pennell, C. E., O’Sullivan, T. A., Ochoa-Rosales, C., Voortman, T., van Meurs, J. B. J., Young, K. L., Graff, M., Wang, Y., Kiel, D. P., Smith, C. E., Jacques, P. F. & Levy, D., 2023, In: Epigenetics. 18, 1, 2211361.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Harrer, P., Škorvánek, M., Kittke, V., Dzinovic, I., Borngräber, F., Thomsen, M., Mandel, V., Svorenova, T., Ostrozovicova, M., Kulcsarova, K., Berutti, R., Busch, H., Ott, F., Kopajtich, R., Prokisch, H., Kumar, K. R., Mencacci, N. E., Kurian, M. A., Di Fonzo, A. & Boesch, S. & 8 others, Kühn, A. A., Blümlein, U., Lohmann, K., Haslinger, B., Weise, D., Jech, R., Winkelmann, J. & Zech, M., Oct 2023, In: Movement Disorders. 38, 10, p. 1914-1924 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

the MJFF Global Genetic Parkinson's Disease Study Group, 1 Feb 2023, In: Movement Disorders. 38, 2, p. 286-303 18 p.

Research output: Contribution to journal › Article › peer-review

Open Access

21 Scopus citations

Epigenetic Association Analyses and Risk Prediction of RLS

Harrer, P., Mirza-Schreiber, N., Mandel, V., Roeber, S., Stefani, A., Naher, S., Wagner, M., Gieger, C., Waldenberger, M., Peters, A., Högl, B., Herms, J., Schormair, B., Zhao, C., Winkelmann, J. & Oexle, K., Aug 2023, In: Movement Disorders. 38, 8, p. 1410-1418 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Episignature analysis of moderate effects and mosaics

Oexle, K., Zech, M., Stühn, L. G., Siegert, S., Brunet, T., Schmidt, W. M., Wagner, M., Schmidt, A., Engels, H., Tilch, E., Monestier, O., Destrėe, A., Hanker, B., Boesch, S., Jech, R., Berutti, R., Kaiser, F., Haslinger, B., Haack, T. B. & Garavaglia, B. & 3 others, Krawitz, P., Winkelmann, J. & Mirza-Schreiber, N., Sep 2023, In: European Journal of Human Genetics. 31, 9, p. 1032-1039 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

Zanuttigh, E., Rusha, E., Peron, C., Brunetti, D., Zorzi, G., Pertek, A., Nteli, P., Winkelmann, J., Tiranti, V. & Iuso, A., Oct 2023, In: Stem Cell Research. 72, 103197.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago

Jacob, M., Brugger, M., Andres, S., Wagner, M., Graf, E., Berutti, R., Tilch, E., Pavlov, M., Mayerhanser, K., Hoefele, J., Meitinger, T., Winkelmann, J. & Brunet, T., 2023, (Accepted/In press) In: Neuropediatrics.

Research output: Contribution to journal › Article › peer-review

HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44⁺ Natural Killer Cells in Ulcerative Colitis

Hamburg Intestinal Tissue Study Group & International Inflammatory Bowel Disease Genetics Consortium, Oct 2023, In: Gastroenterology. 165, 4, p. 946-962.e13

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro

Zanuttigh, E., Derderian, K., Güra, M. A., Geerlof, A., Di Meo, I., Cavestro, C., Hempfling, S., Ortiz-Collazos, S., Mauthe, M., Kmieć, T., Cammarota, E., Panzeri, M. C., Klopstock, T., Sattler, M., Winkelmann, J., Messias, A. C. & Iuso, A., Jan 2023, In: Pharmaceutics. 15, 1, 267.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

FinnGen, Dec 2023, In: Nature Communications. 14, 1, 2709.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Smallwood, K., Watt, K. E. N., Ide, S., Baltrunaite, K., Brunswick, C., Inskeep, K., Capannari, C., Adam, M. P., Begtrup, A., Bertola, D. R., Demmer, L., Demo, E., Devinsky, O., Gallagher, E. R., Guillen Sacoto, M. J., Jech, R., Keren, B., Kussmann, J., Ladda, R. & Lansdon, L. A. & 25 others, Lunke, S., Mardy, A., McWalters, K., Person, R., Raiti, L., Saitoh, N., Saunders, C. J., Schnur, R., Skorvanek, M., Sell, S. L., Slavotinek, A., Sullivan, B. R., Stark, Z., Symonds, J. D., Wenger, T., Weber, S., Whalen, S., White, S. M., Winkelmann, J., Zech, M., Zeidler, S., Maeshima, K., Stottmann, R. W., Trainor, P. A. & Weaver, K. N., 4 May 2023, In: American Journal of Human Genetics. 110, 5, p. 809-825 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS

Hellbach, F., Sinke, L., Costeira, R., Baumeister, S. E., Beekman, M., Louca, P., Leeming, E. R., Mompeo, O., Berry, S., Wilson, R., Wawro, N., Freuer, D., Hauner, H., Peters, A., Winkelmann, J., Koenig, W., Meisinger, C., Waldenberger, M., Heijmans, B. T. & Slagboom, P. E. & 2 others, Bell, J. T. & Linseisen, J., Apr 2023, In: European Journal of Nutrition. 62, 3, p. 1357-1375 19 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders

Pavelekova, P., Necpal, J., Jech, R., Havrankova, P., Svantnerova, J., Jurkova, V., Gdovinova, Z., Lackova, A., Han, V., Winkelmann, J., Zech, M. & Skorvanek, M., Jun 2023, In: Parkinsonism and Related Disorders. 111, 105352.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions

Harrer, P., Schalk, A., Shimura, M., Baer, S., Calmels, N., Spitz, M. A., Warde, M. T. A., Schaefer, E., Kittke, V. M. S., Dincer, Y., Wagner, M., Dzinovic, I., Berutti, R., Sato, T., Shirakawa, T., Okazaki, Y., Murayama, K., Oexle, K., Prokisch, H. & Mall, V. & 3 others, Melčák, I., Winkelmann, J. & Zech, M., Feb 2023, In: Annals of Neurology. 93, 2, p. 330-335 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Relationship of serum beta-synuclein with blood biomarkers and brain atrophy

for the FTLD Consortium, Apr 2023, In: Alzheimer's and Dementia. 19, 4, p. 1358-1371 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

The genetic etiology of periodic limb movement in sleep

Edelson, J. L., Schneider, L. D., Amar, D., Brink-Kjaer, A., Cederberg, K. L., Kutalik, Z., Hagen, E. W., Peppard, P. E., Tempaku, P. F., Tufik, S., Evans, D. S., Stone, K., Tranah, G., Cade, B., Redline, S., Haba-Rubio, J., Heinzer, R., Marques-Vidal, P., Vollenweider, P. & Winkelmann, J. & 2 others, Zou, J. & Mignot, E., 1 Apr 2023, In: Sleep. 46, 4, zsac121.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit

Hellbach, F., Freuer, D., Meisinger, C., Peters, A., Winkelmann, J., Costeira, R., Hauner, H., Baumeister, S. E., Bell, J. T., Waldenberger, M. & Linseisen, J., 2023, In: Frontiers in Nutrition. 10, 1295078.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Variants in ATP5F1B are associated with dominantly inherited dystonia

Nasca, A., Mencacci, N. E., Invernizzi, F., Zech, M., Keller Sarmiento, I. J., Legati, A., Frascarelli, C., Bustos, B. I., Romito, L. M., Krainc, D., Winkelmann, J., Carecchio, M., Nardocci, N., Zorzi, G., Prokisch, H., Lubbe, S. J., Garavaglia, B. & Ghezzi, D., 1 Jul 2023, In: Brain. 146, 7, p. 2730-2738 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2022

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

Grofik, M., Cibulka, M., Olekšáková, J., Turčanová Koprušáková, M., Galanda, T., Necpál, J., Jungová, P., Kurča, E., Winkelmann, J., Zech, M. & Jech, R., Dec 2022, In: BMC Neurology. 22, 1, 344.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia

Neilson, D. E., Zech, M., Hufnagel, R. B., Slone, J., Wang, X., Homan, S., Gutzwiller, L. M., Leslie, E. J., Leslie, N. D., Xiao, J., Hedera, P., LeDoux, M. S., Gebelein, B., Wilbert, F., Eckenweiler, M., Winkelmann, J., Gilbert, D. L. & Huang, T., Feb 2022, In: Movement Disorders. 37, 2, p. 375-383 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

Garavaglia, B., Vallian, S., Romito, L. M., Straccia, G., Capecci, M., Invernizzi, F., Andrenelli, E., Kazemi, A., Boesch, S., Kopajtich, R., Olfati, N., Shariati, M., Shoeibi, A., Sadr-Nabavi, A., Prokisch, H., Winkelmann, J. & Zech, M., Apr 2022, In: Parkinsonism and Related Disorders. 97, p. 52-56 5 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Association between Usual Dietary Intake of Food Groups and DNA Methylation and Effect Modification by Metabotype in the KORA FF4 Cohort

Hellbach, F., Baumeister, S. E., Wilson, R., Wawro, N., Dahal, C., Freuer, D., Hauner, H., Peters, A., Winkelmann, J., Schwettmann, L., Rathmann, W., Kronenberg, F., Koenig, W., Meisinger, C., Waldenberger, M. & Linseisen, J., Jul 2022, In: Life. 12, 7, 1064.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J. & Kurian, M. A. & 9 others, Clot, F., Méneret, A., de Sainte Agathe, J. M., Fung, V. S. C., Vidailhet, M., Baumann, M., Marquardt, T., Winkelmann, J. & Boesch, S., Jan 2022, In: Movement Disorders. 37, 1, p. 137-147 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E. & Doco-Fenzy, M. & 37 others, Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset

Mirza-Schreiber, N., Zech, M., Wilson, R., Brunet, T., Wagner, M., Jech, R., Boesch, S., Škorvánek, M., Necpál, J., Weise, D., Weber, S., Mollenhauer, B., Trenkwalder, C., Maier, E. M., Borggraefe, I., Vill, K., Hackenberg, A., Pilshofer, V., Kotzaeridou, U. & Schwaibold, E. M. C. & 8 others, Hoefele, J., Waldenberger, M., Gieger, C., Peters, A., Meitinger, T., Schormair, B., Winkelmann, J. & Oexle, K., 1 Feb 2022, In: Brain. 145, 2, p. 644-654 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

18 Scopus citations

Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation

Lam, D. D., Williams, R. H., Lujan, E., Tanabe, K., Huber, G., Saw, N. L., Merl-Pham, J., Salminen, A. V., Lohse, D., Spendiff, S., Plastini, M. J., Zech, M., Lochmüller, H., Geerlof, A., Hauck, S. M., Shamloo, M., Wernig, M. & Winkelmann, J., 23 Feb 2022, In: Journal of Neuroscience. 42, 8, p. 1557-1573 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Concept of the Munich/Augsburg Consortium Precision in Mental Health for the German Center of Mental Health

Falkai, P., Koutsouleris, N., Bertsch, K., Bialas, M., Binder, E., Bühner, M., Buyx, A., Cai, N., Cappello, S., Ehring, T., Gensichen, J., Hamann, J., Hasan, A., Henningsen, P., Leucht, S., Möhrmann, K. H., Nagelstutz, E., Padberg, F., Peters, A. & Pfäffel, L. & 13 others, Reich-Erkelenz, D., Riedl, V., Rueckert, D., Schmitt, A., Schulte-Körne, G., Scheuring, E., Schulze, T. G., Starzengruber, R., Stier, S., Theis, F. J., Winkelmann, J., Wurst, W. & Priller, J., 4 Mar 2022, In: Frontiers in Psychiatry. 13, 815718.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

ExomeChip-based rare variant association study in restless legs syndrome

Tilch, E., Schormair, B., Zhao, C., Högl, B., Stefani, A., Berger, K., Trenkwalder, C., Bachmann, C. G., Hornyak, M., Fietze, I., Müller-Nurasyid, M., Peters, A., Herms, S., Nöthen, M. M., Müller-Myhsok, B., Oexle, K. & Winkelmann, J., Jun 2022, In: Sleep Medicine. 94, p. 26-30 5 p.

Research output: Contribution to journal › Article › peer-review

Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum

Witzel, S., Wagner, M., Zhao, C., Kandler, K., Graf, E., Berutti, R., Oexle, K., Brenner, D., Winkelmann, J. & Ludolph, A. C., Nov 2022, In: Neurobiology of Aging. 119, p. 117-126 10 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes

Dzinovic, I., Boesch, S., Škorvánek, M., Necpál, J., Švantnerová, J., Pavelekova, P., Havránková, P., Tsoma, E., Indelicato, E., Runkel, E., Held, V., Weise, D., Janzarik, W., Eckenweiler, M., Berweck, S., Mall, V., Haslinger, B., Jech, R., Winkelmann, J. & Zech, M., Sep 2022, In: Parkinsonism and Related Disorders. 102, p. 1-6 6 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation

Lam, D. D., Antic Nikolic, A., Zhao, C., Mirza-Schreiber, N., Krȩżel, W., Oexle, K. & Winkelmann, J., 1 Jun 2022, In: Human Molecular Genetics. 31, 11, p. 1733-1746 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation

Škorvánek, M., Jech, R., Winkelmann, J. & Zech, M., Apr 2022, In: Annals of Clinical and Translational Neurology. 9, 4, p. 577-581 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry

Schormair, B., Zhao, C., Salminen, A. V., Oexle, K. & Winkelmann, J., 1 Aug 2022, In: Sleep. 45, 8, zsac098.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Juliane Winkelmann

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