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Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98737-8
By:
- Blomen, Chiara L.;
- Pott, Aliaksandra;
- Volk, Alexander E.;
- Budäus, Lars;
- Witzel, Isabell
Publication type:
Article
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
Published in:
EMBO Molecular Medicine, 2022, v. 14, n. 8, p. 1, doi. 10.15252/emmm.202216423
By:
- Prondzynski, Maksymilian;
- Lemoine, Marc D;
- Zech, Antonia TL;
- Horváth, András;
- Di Mauro, Vittoria;
- Koivumäki, Jussi T;
- Kresin, Nico;
- Busch, Josefine;
- Krause, Tobias;
- Krämer, Elisabeth;
- Schlossarek, Saskia;
- Spohn, Michael;
- Friedrich, Felix W;
- Münch, Julia;
- Laufer, Sandra D;
- Redwood, Charles;
- Volk, Alexander E;
- Hansen, Arne;
- Mearini, Giulia;
- Catalucci, Daniele
Publication type:
Article
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
Published in:
EMBO Molecular Medicine, 2019, v. 11, n. 12, p. N.PAG, doi. 10.15252/emmm.201911115
By:
- Prondzynski, Maksymilian;
- Lemoine, Marc D;
- Zech, Antonia TL;
- Horváth, András;
- Di Mauro, Vittoria;
- Koivumäki, Jussi T;
- Kresin, Nico;
- Busch, Josefine;
- Krause, Tobias;
- Krämer, Elisabeth;
- Schlossarek, Saskia;
- Spohn, Michael;
- Friedrich, Felix W;
- Münch, Julia;
- Laufer, Sandra D;
- Redwood, Charles;
- Volk, Alexander E;
- Hansen, Arne;
- Mearini, Giulia;
- Catalucci, Daniele
Publication type:
Article
Poly- GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/ FTD.
Published in:
EMBO Molecular Medicine, 2017, v. 9, n. 7, p. 859, doi. 10.15252/emmm.201607486
By:
- Lehmer, Carina;
- Oeckl, Patrick;
- Weishaupt, Jochen H;
- Volk, Alexander E;
- Diehl‐Schmid, Janine;
- Schroeter, Matthias L;
- Lauer, Martin;
- Kornhuber, Johannes;
- Levin, Johannes;
- Fassbender, Klaus;
- Landwehrmeyer, Bernhard;
- Schludi, Martin H;
- Arzberger, Thomas;
- Kremmer, Elisabeth;
- Flatley, Andrew;
- Feederle, Regina;
- Steinacker, Petra;
- Weydt, Patrick;
- Ludolph, Albert C;
- Edbauer, Dieter
Publication type:
Article
NEK1 mutations in familial amyotrophic lateral sclerosis.
Published in:
2016
By:
- Brenner, David;
- Müller, Kathrin;
- Wieland, Thomas;
- Weydt, Patrick;
- Böhm, Sarah;
- Lulé, Dorothée;
- Hübers, Annemarie;
- Neuwirth, Christoph;
- Weber, Markus;
- Borck, Guntram;
- Wahlqvist, Magnus;
- Danzer, Karin M.;
- Volk, Alexander E.;
- Meitinger, Thomas;
- Strom, Tim M.;
- Otto, Markus;
- Kassubek, Jan;
- Ludolph, Albert C.;
- Andersen, Peter M.;
- Weishaupt, Jochen H.
Publication type:
Letter
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e309, doi. 10.1093/brain/awu227
By:
- Müller, Kathrin;
- Andersen, Peter M.;
- Hübers, Annemarie;
- Marroquin, Nicolai;
- Volk, Alexander E.;
- Danzer, Karin M.;
- Meitinger, Thomas;
- Ludolph, Albert C.;
- Strom, Tim M.;
- Weishaupt, Jochen H.
Publication type:
Article
Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.
Published in:
2014
By:
- Freischmidt, Axel;
- Müller, Kathrin;
- Zondler, Lisa;
- Weydt, Patrick;
- Volk, Alexander E;
- Bozic, Anze Losdorfer;
- Walter, Michael;
- Bonin, Michael;
- Mayer, Benjamin;
- von Arnim, Christine A F;
- Otto, Markus;
- Dieterich, Christoph;
- Holzmann, Karlheinz;
- Andersen, Peter M;
- Ludolph, Albert C;
- Danzer, Karin M;
- Weishaupt, Jochen H;
- Božič, Anže Lošdorfer
Publication type:
journal article
Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 4, p. 1358, doi. 10.1002/alz.12790
By:
- Oeckl, Patrick;
- Anderl‐Straub, Sarah;
- Danek, Adrian;
- Diehl‐Schmid, Janine;
- Fassbender, Klaus;
- Fliessbach, Klaus;
- Halbgebauer, Steffen;
- Huppertz, Hans‐Jürgen;
- Jahn, Holger;
- Kassubek, Jan;
- Kornhuber, Johannes;
- Landwehrmeyer, Bernhard;
- Lauer, Martin;
- Prudlo, Johannes;
- Schneider, Anja;
- Schroeter, Matthias L.;
- Steinacker, Petra;
- Volk, Alexander E.;
- Wagner, Matias;
- Winkelmann, Juliane
Publication type:
Article
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.
Published in:
2020
By:
- Niemeyer, Elisabeth;
- Mofid, Hamid;
- Zornig, Carsten;
- Burandt, Eike-Christian;
- Stein, Alexander;
- Block, Andreas;
- Volk, Alexander E.
Publication type:
journal article
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Published in:
Human Genetics, 2021, v. 140, n. 8, p. 1157, doi. 10.1007/s00439-021-02285-0
By:
- Volk, Alexander E.;
- Hedergott, Andrea;
- Preising, Markus;
- Rading, Sebastian;
- Fricke, Julia;
- Herkenrath, Peter;
- Nürnberg, Peter;
- Altmüller, Janine;
- von Ameln, Simon;
- Lorenz, Birgit;
- Neugebauer, Antje;
- Karsak, Meliha;
- Kubisch, Christian
Publication type:
Article
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63515
By:
- Papingi, Dzhoy;
- Bierhals, Tatjana;
- Volk, Alexander E.;
- Kutsche, Michael;
- Paul, Kevin;
- Herget, Theresia
Publication type:
Article
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.
Published in:
Audiology & Neurotology, 2013, v. 18, n. 3, p. 192, doi. 10.1159/000350246
By:
- Volk, Alexander E.;
- Lang-Roth, Ruth;
- Yigit, Goekhan;
- Borck, Guntram;
- Nuernberg, Gudrun;
- Rosenkranz, Stephan;
- Nuernberg, Peter;
- Kubisch, Christian;
- Beutner, Dirk
Publication type:
Article
<i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
By:
- Dobson-Stone, Carol;
- Hallupp, Marianne;
- Loy, Clement T.;
- Thompson, Elizabeth M.;
- Haan, Eric;
- Sue, Carolyn M.;
- Panegyres, Peter K.;
- Razquin, Cristina;
- Seijo-Martínez, Manuel;
- Rene, Ramon;
- Gascon, Jordi;
- Campdelacreu, Jaume;
- Schmoll, Birgit;
- Volk, Alexander E.;
- Brooks, William S.;
- Schofield, Peter R.;
- Pastor, Pau;
- Kwok, John B. J.
Publication type:
Article
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Published in:
Human Genetics, 2011, v. 129, n. 1, p. 45, doi. 10.1007/s00439-010-0896-2
By:
- Borck, Guntram;
- Wunram, Heidrun;
- Steiert, Angela;
- Volk, Alexander E.;
- Körber, Friederike;
- Roters, Sigrid;
- Herkenrath, Peter;
- Wollnik, Bernd;
- Morris-Rosendahl, Deborah J.;
- Kubisch, Christian
Publication type:
Article
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Published in:
2019
By:
- Weber-Lassalle, Nana;
- Borde, Julika;
- Weber-Lassalle, Konstantin;
- Horváth, Judit;
- Niederacher, Dieter;
- Arnold, Norbert;
- Kaulfuß, Silke;
- Ernst, Corinna;
- Paul, Victoria G.;
- Honisch, Ellen;
- Klaschik, Kristina;
- Volk, Alexander E.;
- Kubisch, Christian;
- Rapp, Steffen;
- Lichey, Nadine;
- Altmüller, Janine;
- Lepkes, Louisa;
- Pohl-Rescigno, Esther;
- Thiele, Holger;
- Nürnberg, Peter
Publication type:
journal article
Neurodegenerative Erkrankungen.
Published in:
Medizinische Genetik, 2018, v. 30, n. 2, p. 229, doi. 10.1007/s11825-018-0195-1
By:
- Volk, Alexander E.;
- Kubisch, Christian
Publication type:
Article
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.
Published in:
Medizinische Genetik, 2018, v. 30, n. 2, p. 252, doi. 10.1007/s11825-018-0185-3
By:
- Volk, Alexander E.;
- Weishaupt, Jochen H.;
- Andersen, Peter M.;
- Ludolph, Albert C.;
- Kubisch, Christian
Publication type:
Article
Gene panel testing of 5589 <italic>BRCA1/2</italic>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Published in:
Cancer Medicine, 2018, v. 7, n. 4, p. 1349, doi. 10.1002/cam4.1376
By:
- Hauke, Jan;
- Horvath, Judit;
- Groß, Eva;
- Gehrig, Andrea;
- Honisch, Ellen;
- Hackmann, Karl;
- Schmidt, Gunnar;
- Arnold, Norbert;
- Faust, Ulrike;
- Sutter, Christian;
- Hentschel, Julia;
- Wang‐gohrke, Shan;
- Smogavec, Mateja;
- Weber, Bernhard H. F.;
- Weber‐lassalle, Nana;
- Weber‐lassalle, Konstantin;
- Borde, Julika;
- Ernst, Corinna;
- Altmüller, Janine;
- Volk, Alexander E.
Publication type:
Article
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
Published in:
Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00045
By:
- Schönecker, Sonja;
- Neuhofer, Christiane;
- Otto, Markus;
- Ludolph, Albert;
- Kassubek, Jan;
- Landwehrmeyer, Bernhard;
- Anderl-Straub, Sarah;
- Semler, Elisa;
- Diehl-Schmid, Janine;
- Prix, Catharina;
- Vollmar, Christian;
- Fortea, Juan;
- Huppertz, Hans-Jürgen;
- Arzberger, Thomas;
- Edbauer, Dieter;
- Feddersen, Berend;
- Dieterich, Marianne;
- Schroeter, Matthias L.;
- Volk, Alexander E.;
- Fließbach, Klaus
Publication type:
Article
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 7, p. 1083, doi. 10.1093/hmg/ddac267
By:
- Chepurwar, Shashank;
- Loh, Sarah M von;
- Wigger, Daniela C;
- Neef, Jakob;
- Frommolt, Peter;
- Beutner, Dirk;
- Lang-Roth, Ruth;
- Kubisch, Christian;
- Strenzke, Nicola;
- Volk, Alexander E
Publication type:
Article
Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.
Published in:
2016
By:
- Weydt, Patrick;
- Oeckl, Patrick;
- Huss, André;
- Müller, Kathrin;
- Volk, Alexander E.;
- Kuhle, Jens;
- Knehr, Antje;
- Andersen, Peter M.;
- Prudlo, Johannes;
- Steinacker, Petra;
- Weishaupt, Jochen H.;
- Ludolph, Albert C.;
- Otto, Markus
Publication type:
journal article
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
Published in:
Journal of Neurology, 2018, v. 265, n. 5, p. 1026, doi. 10.1007/s00415-018-8790-2
By:
- Rosenbohm, Angela;
- Hirsch, Susanne;
- Volk, Alexander E.;
- Grehl, Torsten;
- Grosskreutz, Julian;
- Hanisch, Frank;
- Herrmann, Andreas;
- Kollewe, Katja;
- Kress, Wolfram;
- Meyer, Thomas;
- Petri, Susanne;
- Prudlo, Johannes;
- Wessig, Carsten;
- Müller, Hans-Peter;
- Dreyhaupt, Jens;
- Weishaupt, Jochen;
- Kubisch, Christian;
- Kassubek, Jan;
- Weydt, Patrick;
- Ludolph, Albert C.
Publication type:
Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 20, p. 4055, doi. 10.1093/hmg/ddx296
By:
- Fazeli, Walid;
- Herkenrath, Peter;
- Stiller, Barbara;
- Neugebauer, Antje;
- Fricke, Julia;
- Lang-Roth, Ruth;
- Nürnberg, Gudrun;
- Thoenes, Michaela;
- Becker, Jutta;
- Altmüller, Janine;
- Volk, Alexander E.;
- Kubisch, Christian;
- Heller, Raoul
Publication type:
Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
Published in:
Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
By:
- Rosenbohm, Angela;
- Pott, Hendrik;
- Thomsen, Mirja;
- Rafehi, Haloom;
- Kaya, Sabine;
- Szymczak, Silke;
- Volk, Alexander E.;
- Mueller, Kathrin;
- Silveira, Isabel;
- Weishaupt, Jochen H.;
- Tönnies, Holger;
- Seibler, Philip;
- Zschiedrich, Katja;
- Schaake, Susen;
- Westenberger, Ana;
- Zühlke, Christine;
- Depienne, Christel;
- Trinh, Joanne;
- Ludolph, Albert C.;
- Klein, Christine
Publication type:
Article
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome.
Published in:
Acta Neuropathologica, 2021, v. 142, n. 3, p. 591, doi. 10.1007/s00401-021-02346-8
By:
- Schoof, Melanie;
- Kordes, Uwe;
- Volk, Alexander E.;
- Al-Kershi, Sina;
- Kresbach, Catena;
- Schüller, Ulrich
Publication type:
Article
Predicting disease progression in behavioral variant frontotemporal dementia.
Published in:
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12262
By:
- Anderl‐Straub, Sarah;
- Lausser, Ludwig;
- Lombardi, Jolina;
- Uttner, Ingo;
- Fassbender, Klaus;
- Fliessbach, Klaus;
- Huppertz, Hans‐Jürgen;
- Jahn, Holger;
- Kornhuber, Johannes;
- Obrig, Hellmuth;
- Schneider, Anja;
- Semler, Elisa;
- Synofzik, Matthis;
- Danek, Adrian;
- Prudlo, Johannes;
- Kassubek, Jan;
- Landwehrmeyer, Bernhard;
- Lauer, Martin;
- Volk, Alexander E.;
- Wiltfang, Jens
Publication type:
Article
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Published in:
2021
By:
- Jandl, Nico Maximilian;
- Schmidt, Tobias;
- Rolvien, Tim;
- Stürznickel, Julian;
- Chrysostomou, Konstantin;
- von Vopelius, Emil;
- Volk, Alexander E.;
- Schinke, Thorsten;
- Kubisch, Christian;
- Amling, Michael;
- Barvencik, Florian
Publication type:
journal article
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
Published in:
Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 9, p. 1351, doi. 10.1007/s00417-010-1417-7
By:
- Volk, Alexander E.;
- Fricke, Julia;
- Strobl, Judith;
- Kolling, Gerold;
- Kubisch, Christian;
- Neugebauer, Antje
Publication type:
Article
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Published in:
2017
By:
- Lang-Roth, Ruth;
- Fischer-Krall, Eva;
- Kornblum, Cornelia;
- Nürnberg, Gudrun;
- Meschede, Dieter;
- Goebel, Ingrid;
- Nürnberg, Peter;
- Beutner, Dirk;
- Kubisch, Christian;
- Walger, Martin;
- Volk, alexander E.
Publication type:
journal article
Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls.
Published in:
PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197329
By:
- Denk, Johannes;
- Oberhauser, Felix;
- Kornhuber, Johannes;
- Wiltfang, Jens;
- Fassbender, Klaus;
- Schroeter, Matthias L.;
- Volk, Alexander E.;
- Diehl-Schmid, Janine;
- Prudlo, Johannes;
- Danek, Adrian;
- Landwehrmeyer, Bernhard;
- Lauer, Martin;
- Otto, Markus;
- Jahn, Holger;
- null, null
Publication type:
Article

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