Dr.med. ID: 1447334
Alexander Volk
Publications
- 2023
Cluster headache genome-wide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor
Winsvold, B. S., Harder, A. V. E., Ran, C., Chalmer, M. A., Dalmasso, M. C., Ferkingstad, E., Tripathi, K. P., Bacchelli, E., Børte, S., Fourier, C., Petersen, A. S., Vijfhuizen, L. S., Magnusson, S. H., O'Connor, E., Bjornsdottir, G., Häppölä, P., Wang, Y-F., Callesen, I., Kelderman, T., Gallardo, V. J., de Boer, I., Jennysdotter Olofsgård, F., Heinze, K., Lund, N., Thomas, L. F., Hsu, C-L., Pirinen, M., Hautakangas, H., Ribasés, M., Guerzoni, S., Sivakumar, P., Yip, J., Heinze, A., Küçükali, F., Ostrowski, S. R., Pedersen, O. B., Kristoffersen, E. S., Martinsen, A. E., Artigas, M. S., Lagrata, S., Cainazzo, M. M., Adebimpe, J., Quinn, O., Göbel, C., Cirkel, A., Volk, A. E., Heilmann-Heimbach, S., Skogholt, A. H., Gabrielsen, M. E., Wilbrink, L. A., Danno, D., Mehta, D., Guðbjartsson, D. F., Rosendaal, F. R., Willems van Dijk, K., Fronczek, R., Wagner, M., Scherer, M., Göbel, H., Sleegers, K., Sveinsson, O. A., Pani, L., Zoli, M., Ramos-Quiroga, J. A., Dardiotis, E., Steinberg, A., Riedel-Heller, S., Sjöstrand, C., Thorgeirsson, T. E., Stefansson, H., Southgate, L., Trembath, R. C., Vandrovcova, J., Noordam, R., Paemeleire, K., Stefansson, K., Fann, C. S-J., Waldenlind, E., Tronvik, E., Jensen, R. H., Chen, S-P., Houlden, H., Terwindt, G. M., Kubisch, C., Maestrini, E., Vikelis, M., Pozo-Rosich, P., Belin, A. C., Matharu, M., van den Maagdenberg, A. M. J. M., Hansen, T. F., Ramirez, A., Zwart, J-A. & HUNT All-In Headache, The International Headache Genetics Consortium, DBDS Genomic Consortium, 10.2023, In: ANN NEUROL. 94, 4, p. 713-726 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I., Chan, S. H., Chen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, D. G. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., Hansen, T. V. O., Hauke, J., Hodge, J., Hu, C., Huang, H., Ishak, N. D. B., Iwasaki, Y., Konstantopoulou, I., Kraft, P., Lacey, J., Lázaro, C., Li, N., Lim, W. K., Lindstrom, S., Lori, A., Martinez, E., Martins, A., Matsuda, K., Matullo, G., McInerny, S., Michailidou, K., Montagna, M., Monteiro, A. N. A., Mori, L., Nathanson, K., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Palmer, J., Pasini, B., Patel, A., Piane, M., Poppe, B., Radice, P., Renieri, A., Resta, N., Richardson, M. E., Rosseel, T., Ruddy, K. J., Santamariña, M., Dos Santos, E. S., Teras, L., Toland, A. E., Trentham-Dietz, A., Vachon, C. M., Volk, A. E., Weber-Lassalle, N., Weitzel, J. N., Wiesmuller, L., Winham, S., Yadav, S., Yannoukakos, D., Yao, S., Zampiga, V., Zethoven, M., Zhang, Z. W., Zima, T., Spurdle, A. B., Vega, A., Rossing, M., Del Valle, J., De Nicolo, A., Hahnen, E., Claes, K. B. M., Ngeow, J., Biobank Japan, Momozawa, Y., James, P. A., Couch, F. J., Macurek, L. & Kleibl, Z., 15.08.2023, In: CLIN CANCER RES. 29, 16, p. 3037-3050 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Relationship of serum beta-synuclein with blood biomarkers and brain atrophy
Oeckl, P., Anderl-Straub, S., Danek, A., Diehl-Schmid, J., Fassbender, K., Fliessbach, K., Halbgebauer, S., Huppertz, H-J., Jahn, H., Kassubek, J., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Prudlo, J., Schneider, A., Schroeter, M. L., Steinacker, P., Volk, A. E., Wagner, M., Winkelmann, J., Wiltfang, J., Ludolph, A. C., Otto, M. & FTLD consortium, 04.2023, In: ALZHEIMERS DEMENT. 19, 4, p. 1358-1371 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
Chepurwar, S., von Loh, S. M., Wigger, D. C., Neef, J., Frommolt, P., Beutner, D., Lang-Roth, R., Kubisch, C., Strenzke, N. & Volk, A. E., 20.03.2023, In: HUM MOL GENET. 32, 7, p. 1083-1089 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
Rosenbohm, A., Pott, H., Thomsen, M., Rafehi, H., Kaya, S., Szymczak, S., Volk, A. E., Mueller, K., Silveira, I., Weishaupt, J. H., Tönnies, H., Seibler, P., Zschiedrich, K., Schaake, S., Westenberger, A., Zühlke, C., Depienne, C., Trinh, J., Ludolph, A. C., Klein, C., Bahlo, M. & Lohmann, K., 12.2022, In: MOVEMENT DISORD. 37, 12, p. 2427-2439 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy - Addendum
Prondzynski, M., Lemoine, M. D., Zech, A. T., Horváth, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F. W., Münch, J., Laufer, S. D., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 08.08.2022, In: EMBO MOL MED. 14, 8, e16423.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B-J., Dubois, S., Collin-Deschesnes, A-C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M. A., Allen, J., Altmüller, J., Arnold, N., Ausems, M. G. E. M., Berutti, R., Bolla, M. K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M. R., Dunning, A. M., Engel, C., Gehrig, A., Geurts-Giele, W. R. R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Horváth, J., Ikram, M. A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J. W. M., Niederacher, D., Nürnberg, P., Ott, C-E., Peters, A., Pharoah, P. D. P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T. M., Sutter, C., Thiele, H., van Asperen, C. J., van der Kolk, L., van der Luijt, R. B., Volk, A. E., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B. H. F., Genome Of The Netherlands Project, Ghs Study Group, Devilee, P., Tavtigian, S., Bader, G. D., Meindl, A., Goldgar, D. E., Andrulis, I. L., Schmutzler, R. K., Easton, D. F., Schmidt, M. K., Hahnen, E. & Simard, J., 11.07.2022, In: CANCERS. 14, 14, 3363.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Predictive genetic testing for Motor neuron disease: time for a guideline?
McNeill, A., Amador, M-D-M., Bekker, H., Clarke, A., Crook, A., Cummings, C., McEwen, A., McDermott, C., Quarrell, O., Renieri, A., Roggenbuck, J., Salmon, K., Volk, A., Weishaupt, J. & International Alliance of ALS/MND Associations, 06.2022, In: EUR J HUM GENET. 30, 6, p. 635-636 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Serum GFAP differentiates Alzheimer's disease from frontotemporal dementia and predicts MCI-to-dementia conversion
Oeckl, P., Anderl-Straub, S., Von Arnim, C. A. F., Baldeiras, I., Diehl-Schmid, J., Grimmer, T., Halbgebauer, S., Kort, A. M., Lima, M., Marques, T. M., Ortner, M., Santana, I., Steinacker, P., Verbeek, M. M., Volk, A. E., Ludolph, A. C. & Otto, M., 27.05.2022, In: J NEUROL NEUROSUR PS. 93, p. 659-667 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
Blomen, C. L., Pott, A., Volk, A. E., Budäus, L. & Witzel, I., 11.10.2021, In: SCI REP-UK. 11, 1, p. 20178Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner, M., Lorenz, G., Volk, A. E., Brunet, T., Edbauer, D., Berutti, R., Zhao, C., Anderl-Straub, S., Bertram, L., Danek, A., Deschauer, M., Dill, V., Fassbender, K., Fliessbach, K., Götze, K. S., Jahn, H., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Obrig, H., Prudlo, J., Schneider, A., Schroeter, M. L., Uttner, I., Vukovich, R., Wiltfang, J., Winkler, A. S., Zhou, Q., Ludolph, A. C., German FTLD Consortium, Oexle, K., Otto, M., Diehl-Schmid, J. & Winkelmann, J., 10.2021, In: MOL PSYCHIATR. 26, 10, p. 5824-5832 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Quantifying progression in primary progressive aphasia with structural neuroimaging
Lombardi, J., Mayer, B., Semler, E., Anderl-Straub, S., Uttner, I., Kassubek, J., Diehl-Schmid, J., Danek, A., Levin, J., Fassbender, K., Fliessbach, K., Schneider, A., Huppertz, H-J., Jahn, H., Volk, A., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Prudlo, J., Wiltfang, J., Schroeter, M. L., Ludolph, A., Otto, M. & FTLD consortium, 10.2021, In: ALZHEIMERS DEMENT. 17, 10, p. 1595-1609 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
Schoof, M., Kordes, U., Volk, A. E., Al-Kershi, S., Kresbach, C. & Schüller, U., 09.2021, In: ACTA NEUROPATHOL. 142, 3, p. 591-593 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
Volk, A. E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. & Kubisch, C., 08.2021, In: HUM GENET. 140, 8, p. 1157-1168 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers
Borde, J., Ernst, C., Wappenschmidt, B., Niederacher, D., Weber-Lassalle, K., Schmidt, G., Hauke, J., Quante, A. S., Weber-Lassalle, N., Horváth, J., Pohl-Rescigno, E., Arnold, N., Rump, A., Gehrig, A., Hentschel, J., Faust, U., Dutrannoy, V., Meindl, A., Kuzyakova, M., Wang-Gohrke, S., Weber, B. H. F., Sutter, C., Volk, A. E., Giannakopoulou, O., Lee, A., Engel, C., Schmidt, M. K., Antoniou, A. C., Schmutzler, R. K., Kuchenbaecker, K. & Hahnen, E., 01.07.2021, In: JNCI-J NATL CANCER I. 113, 7, p. 893-899 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study
Steinacker, P., Feneberg, E., Halbgebauer, S., Witzel, S., Verde, F., Oeckl, P., Van Damme, P., Gaur, N., Gray, E., Grosskreutz, J., Jardel, C. G., Kachanov, M., Kuhle, J., Lamari, F., Maceski, A., Del Mar Amador, M., Mayer, B., Morelli, C., Petri, S., Poesen, K., Raaphorst, J., Salachas, F., Silani, V., Turner, M. R., Verbeek, M. M., Volk, A. E., Weishaupt, J. H., Weydt, P., Ludolph, A. C. & Otto, M., 05.2021, In: AMYOTROPH LAT SCL FR. 22, 3-4, p. 276-286 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
Jandl, N. M., Schmidt, T., Rolvien, T., Stürznickel, J., Chrysostomou, K., von Vopelius, E., Volk, A. E., Schinke, T., Kubisch, C., Amling, M. & Barvencik, F., 03.2021, In: CALCIFIED TISSUE INT. 108, 3, p. 288-301 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth, K., Neu, A., Rau, I., Hülsemann, W., Kutsche, K. & Volk, A. E., 03.2021, In: EUR J MED GENET. 64, 3, 104161.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Predicting disease progression in behavioral variant frontotemporal dementia
Anderl-Straub, S., Lausser, L., Lombardi, J., Uttner, I., Fassbender, K., Fliessbach, K., Huppertz, H-J., Jahn, H., Kornhuber, J., Obrig, H., Schneider, A., Semler, E., Synofzik, M., Danek, A., Prudlo, J., Kassubek, J., Landwehrmeyer, B., Lauer, M., Volk, A. E., Wiltfang, J., Diehl-Schmid, J., Ludolph, A. C., Schroeter, M. L., Kestler, H. A., Otto, M. & FTLD consortium, 2021, In: ALZH DEMENT-DADM. 13, 1, p. e12262Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family
Niemeyer, E., Mofid, H., Zornig, C., Burandt, E-C., Stein, A., Block, A. & Volk, A. E., 03.05.2020, In: BMC GASTROENTEROL. 20, 1, p. 129Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
Barschke, P., Öckl, P., Steinacker, P., Al Shweiki, M. R., Weishaupt, J. H., Landwehrmeyer, G. B., Anderl-Straub, S., Weydt, P., Diehl-Schmid, J., Danek, A., Kornhuber, J., Schroeter, M. L., Prudlo, J., Jahn, H., Fassbender, K., Lauer, M., van der Ende, E. L., van Swieten, J. C., Volk, A. E., Ludolph, A. C., Otto, M. & German FTLD Consortium, 05.2020, In: J NEUROL NEUROSUR PS. 91, 5, p. 503-511 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
Yilmaz, R., Müller, K., Brenner, D., Volk, A. E., Borck, G., Hermann, A., Meitinger, T., Strom, T. M., Danzer, K. M., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 03.2020, In: NEUROBIOL AGING. 87, p. 139.e9-139.e15Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., Mead, S., Bocchetta, M., Boeve, B. F., Knopman, D. S., Graff-Radford, N. R., Forsberg, L. K., Rademakers, R., Wszolek, Z. K., van Swieten, J. C., Jiskoot, L. C., Meeter, L. H., Dopper, E. G., Papma, J. M., Snowden, J. S., Saxon, J., Jones, M., Pickering-Brown, S., Le Ber, I., Camuzat, A., Brice, A., Caroppo, P., Ghidoni, R., Pievani, M., Benussi, L., Binetti, G., Dickerson, B. C., Lucente, D., Krivensky, S., Graff, C., Öijerstedt, L., Fallström, M., Thonberg, H., Ghoshal, N., Morris, J. C., Borroni, B., Benussi, A., Padovani, A., Galimberti, D., Scarpini, E., Fumagalli, G. G., Mackenzie, I. R., Hsiung, G-Y. R., Sengdy, P., Boxer, A. L., Rosen, H., Taylor, J. B., Synofzik, M., Wilke, C., Sulzer, P., Hodges, J. R., Halliday, G., Kwok, J., Sanchez-Valle, R., Lladó, A., Borrego-Ecija, S., Santana, I., Almeida, M. R., Tábuas-Pereira, M., Moreno, F., Barandiaran, M., Indakoetxea, B., Levin, J., Danek, A., Rowe, J. B., Cope, T. E., Otto, M., Anderl-Straub, S., de Mendonça, A., Maruta, C., Masellis, M., Black, S. E., Couratier, P., Lautrette, G., Huey, E. D., Sorbi, S., Nacmias, B., Laforce, R., Tremblay, M-P. L., Vandenberghe, R., Damme, P. V., Rogalski, E. J., Weintraub, S., Gerhard, A., Onyike, C. U., Ducharme, S., Papageorgiou, S. G., Lyn, A. S., Brodtmann, A., Finger, E., Guerreiro, R., Bras, J., Rohrer, J. D. & FTD Prevention Initiative, 02.2020, In: LANCET NEUROL. 19, 2, p. 145-156 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Hypophosphatasie - eine klinisch und genetisch variable Erkrankung
Jandl, N. M., Volk, A. E. & Barvencik, F., 12.12.2019, In: MED GENET-BERLIN. 2019, 31, p. 364-371 31.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Prondzynski, M., Lemoine, M. D., Zech, A. T. L., Horvath, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F., Münch, J., Laufer, S., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 12.2019, In: EMBO MOL MED. 11, 12, e11115.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V. G., Honisch, E., Klaschik, K., Volk, A. E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R. K., Hahnen, E. & Hauke, J., 29.04.2019, In: BREAST CANCER RES. 21, 1, p. 55Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
Verde, F., Steinacker, P., Weishaupt, J. H., Kassubek, J., Oeckl, P., Halbgebauer, S., Tumani, H., von Arnim, C. A. F., Dorst, J., Feneberg, E., Mayer, B., Müller, H-P., Gorges, M., Rosenbohm, A., Volk, A. E., Silani, V., Ludolph, A. C. & Otto, M., 02.2019, In: J NEUROL NEUROSUR PS. 90, 2, p. 157-164 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
Diehl-Schmid, J., Licata, A., Goldhardt, O., Förstl, H., Yakushew, I., Otto, M., Anderl-Straub, S., Beer, A., Ludolph, A. C., Landwehrmeyer, G. B., Levin, J., Danek, A., Fliessbach, K., Spottke, A., Fassbender, K., Lyros, E., Prudlo, J., Krause, B. J., Volk, A., Edbauer, D., Schroeter, M. L., Drzezga, A., Kornhuber, J., Lauer, M., FTLDc Study Group & Grimmer, T., 31.01.2019, In: TRANSL PSYCHIAT. 9, 1, p. 54Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
Oeckl, P., Weydt, P., Steinacker, P., Anderl-Straub, S., Nordin, F., Volk, A. E., Diehl-Schmid, J., Andersen, P. M., Kornhuber, J., Danek, A., Fassbender, K., Fliessbach, K., Jahn, H., Lauer, M., Müller, K., Knehr, A., Prudlo, J., Schneider, A., Thal, D. R., Yilmazer-Hanke, D., Weishaupt, J. H., Ludolph, A. C., Otto, M. & German Consortium for Frontotemporal Lobar Degeneration, 01.2019, In: J NEUROL NEUROSUR PS. 90, 1, p. 4-10 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Serum neurofilament light chain in behavioral variant frontotemporal dementia
Steinacker, P., Anderl-Straub, S., Diehl-Schmid, J., Semler, E., Uttner, I., von Arnim, C. A. F., Barthel, H., Danek, A., Fassbender, K., Fliessbach, K., Foerstl, H., Grimmer, T., Huppertz, H-J., Jahn, H., Kassubek, J., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Maler, J. M., Mayer, B., Oeckl, P., Prudlo, J., Schneider, A., Volk, A. E., Wiltfang, J., Schroeter, M. L., Ludolph, A. C., Otto, M. & FTLDc Study Group, 09.10.2018, In: NEUROLOGY. 91, 15, p. E1390-E1401Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comprehensive analysis of the mutation spectrum in 301 German ALS families
Müller, K., Brenner, D., Weydt, P., Meyer, T., Grehl, T., Petri, S., Grosskreutz, J., Schuster, J., Volk, A. E., Borck, G., Kubisch, C., Klopstock, T., Zeller, D., Jablonka, S., Sendtner, M., Klebe, S., Knehr, A., Günther, K., Weis, J., Claeys, K. G., Schrank, B., Sperfeld, A-D., Hübers, A., Otto, M., Dorst, J., Meitinger, T., Strom, T. M., Andersen, P. M., Ludolph, A. C., Weishaupt, J. H. & German ALS network MND-NET, 08.2018, In: J NEUROL NEUROSUR PS. 89, 8, p. 817-827 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Rosenbohm, A., Hirsch, S., Volk, A. E., Grehl, T., Grosskreutz, J., Hanisch, F., Herrmann, A., Kollewe, K., Kress, W., Meyer, T., Petri, S., Prudlo, J., Wessig, C., Müller, H-P., Dreyhaupt, J., Weishaupt, J., Kubisch, C., Kassubek, J., Weydt, P. & Ludolph, A. C., 05.2018, In: J NEUROL. 265, 5, p. 1026-1036 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke, J., Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B. H. F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J., Volk, A. E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R. K. & Hahnen, E., 04.2018, In: CANCER MED-US. 7, 4, p. 1349-1358 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hot-spot KIF5A mutations cause familial ALS
Brenner, D., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Strom, T. M., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.03.2018, In: BRAIN. 141, 3, p. 688-697 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Weber-Lassalle, N., Hauke, J., Ramser, J., Richters, L., Groß, E., Blümcke, B., Gehrig, A., Kahlert, A-K., Müller, C. R., Hackmann, K., Honisch, E., Weber-Lassalle, K., Niederacher, D., Borde, J., Thiele, H., Ernst, C., Altmüller, J., Neidhardt, G., Nürnberg, P., Klaschik, K., Schroeder, C., Platzer, K., Volk, A. E., Wang-Gohrke, S., Just, W., Auber, B., Kubisch, C., Schmidt, G., Horvath, J., Wappenschmidt, B., Engel, C., Arnold, N., Dworniczak, B., Rhiem, K., Meindl, A., Schmutzler, R. K. & Hahnen, E., 24.01.2018, In: BREAST CANCER RES. 20, 1, p. 7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study
Schönecker, S., Neuhofer, C., Otto, M., Ludolph, A., Kassubek, J., Landwehrmeyer, B., Anderl-Straub, S., Semler, E., Diehl-Schmid, J., Prix, C., Vollmar, C., Fortea, J., Huppertz, H-J., Arzberger, T., Edbauer, D., Feddersen, B., Dieterich, M., Schroeter, M. L., Volk, A. E., Fließbach, K., Schneider, A., Kornhuber, J., Maler, M., Prudlo, J., Jahn, H., Boeckh-Behrens, T., Danek, A., Klopstock, T., Levin, J. & FTLD Consortium Germany, 2018, In: FRONT AGING NEUROSCI. 10, p. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
Volk, A. E., Weishaupt, J. H., Andersen, P. M., Ludolph, A. C. & Kubisch, C., 2018, In: MED GENET-BERLIN. 30, 2, p. 252-258 7 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls
Denk, J., Oberhauser, F., Kornhuber, J., Wiltfang, J., Fassbender, K., Schroeter, M. L., Volk, A. E., Diehl-Schmid, J., Prudlo, J., Danek, A., Landwehrmeyer, B., Lauer, M., Otto, M., Jahn, H. & FTLDc Study Group, 2018, In: PLOS ONE. 13, 5, p. e0197329Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosis
van Doormaal, P. T., Ticozzi, N., Weishaupt, J. H., Kenna, K., Diekstra, F. P., Verde, F., Andersen, P. M., Dekker, A. M., Tiloca, C., Marroquin, N., Overste, D. J., Pensato, V., Nürnberg, P., Pulit, S. L., Schellevis, R. D., Calini, D., Altmüller, J., Francioli, L. C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A. C., van den Berg, L. H., Kubisch, C., Landers, J. E., Veldink, J. H., Silani, V. & Volk, A. E., 11.2017, In: HUM MUTAT. 38, 11, p. 1534-1541Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A. E., Kubisch, C. & Heller, R., 15.10.2017, In: HUM MOL GENET. 26, 20, p. 4055-4066 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Volk, A. E. & Kubisch, C., 10.2017, In: CURR OPIN NEUROL. 30, 5, p. 523-528Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
Lehmer, C., Oeckl, P., Weishaupt, J. H., Volk, A. E., Diehl-Schmid, J., Schroeter, M. L., Lauer, M., Kornhuber, J., Levin, J., Fassbender, K., Landwehrmeyer, B., Schludi, M. H., Arzberger, T., Kremmer, E., Flatley, A., Feederle, R., Steinacker, P., Weydt, P., Ludolph, A. C., Edbauer, D., Otto, M. & German Consortium for Frontotemporal Lobar Degeneration, 07.2017, In: EMBO MOL MED. 9, 7, p. 859-868 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias
Steinacker, P., Semler, E., Anderl-Straub, S., Diehl-Schmid, J., Schroeter, M. L., Uttner, I., Foerstl, H., Landwehrmeyer, B., von Arnim, C. A. F., Kassubek, J., Oeckl, P., Huppertz, H-J., Fassbender, K., Fliessbach, K., Prudlo, J., Roßmeier, C., Kornhuber, J., Schneider, A., Volk, A. E., Lauer, M., Danek, A., Ludolph, A. C., Otto, M. & FTLDc Study Group, 03.2017, In: NEUROLOGY. 88, 10, p. 961-969Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
Lang-Roth, R., Fischer-Krall, E., Kornblum, C., Nürnberg, G., Meschede, D., Goebel, I., Nürnberg, P., Beutner, D., Kubisch, C., Walger, M. & Volk, A. E., 2017, In: AUDIOL NEURO-OTOL. 22, 1, p. 30-40 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
NEK1 mutations in familial amyotrophic lateral sclerosis
Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D., Hübers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M. & Weishaupt, J. H., 01.05.2016, In: BRAIN. 139, Pt 5, p. e28Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
Feneberg, E., Steinacker, P., Volk, A. E., Weishaupt, J. H., Wollmer, M. A., Boxer, A., Tumani, H., Ludolph, A. C. & Otto, M., 01.03.2016, In: J NEURAL TRANSM. 123, 3, p. 289-96Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Daud, S., Kakar, N., Goebel, I., Hashmi, A. S., Yaqub, T., Nürnberg, G., Nürnberg, P., Morris-Rosendahl, D. J., Wasim, M., Volk, A. E., Kubisch, C., Ahmad, J. & Borck, G., 11.01.2016, In: AMYOTROPH LAT SCL FR. 17, 3-4, p. 260-265 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review