1. A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Issue 10 (22nd March 2022) Authors: Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir J; Andersen, Peter M; Beetz, Christian; Hacker, Sandra; Holla, Øystein L; Kurth, Ingo; Löscher, Wolfgang N; Reiter, Simone B C F; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; S... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 1024 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. Issue 6 (5th June 2007) Authors: Elbracht, Miriam; Senderek, Jan; Eggermann, Thomas; Thürmer, Christian; Park, Jonas; Westhofen, Martin; Zerres, Klaus Journal: Journal of medical genetics Issue: Volume 44:Issue 6(2007) Page Start: e81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. Issue 1 (March 2015) Authors: Roos, Andreas; Weis, Joachim; Korinthenberg, Rudolf; Fehrenbach, Henry; Häusler, Martin; Züchner, Stephan; Mache, Christoph; Hubmann, Holger; Auer‐Grumbach, Michaela; Senderek, Jan Journal: Journal of the peripheral nervous system Issue: Volume 20:Issue 1(2015) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018) Authors: Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ... Journal: EMBO journal Issue: Volume 37:Number 23(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy. Issue 1 (25th October 2018) Authors: Baumann, Matthias; Schreiber, Herbert; Schlotter‐Weigel, Beate; Löscher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter; Senderek, Jan Journal: Clinical genetics Issue: Volume 95:Issue 1(2019) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotype of matrin‐3–related distal myopathy in 16 German patients. Issue 5 (16th September 2014) Authors: Müller, Tobias J.; Kraya, Torsten; Stoltenburg‐Didinger, Gisela; Hanisch, Frank; Kornhuber, Malte; Stoevesandt, Dietrich; Senderek, Jan; Weis, Joachim; Baum, Petra; Deschauer, Marcus; Zierz, Stephan Journal: Annals of neurology Issue: Volume 76:Issue 5(2014:Nov.) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PLEKHG5: Merging phenotypes and disease mechanisms in Charcot‐Marie‐Tooth neuropathy and lower motor neuron disease. (8th February 2021) Authors: Senderek, Jan Journal: European journal of neurology Issue: Volume 28:Number 4(2021) Page Start: 1106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. (3rd February 2015) Authors: Schottmann, Gudrun; Jungbluth, Heinz; Schara, Ulrike; Knierim, Ellen; Morales Gonzalez, Susanne; Gill, Esther; Seifert, Franziska; Norwood, Fiona; Deshpande, Charu; von Au, Katja; Schuelke, Markus; Senderek, Jan Journal: Neurology Issue: Volume 84:Number 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Issue 7 (28th April 2018) Authors: Owen, David; Töpf, Ana; Preethish‐Kumar, Veeramani; Lorenzoni, Paulo José; Vroling, Bas; Scola, Rosana Herminia; Dias‐Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, S... Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling. Issue 7 (2nd April 2013) Authors: Gouttenoire, Estelle Arnaud; Lupo, Vincenzo; Calpena, Eduardo; Bartesaghi, Luca; Schüpfer, Fanny; Médard, Jean‐Jacques; Maurer, Fabienne; Beckmann, Jacques S.; Senderek, Jan; Palau, Francesc; Espinós, Carmen; Chrast, Roman Journal: Glia Issue: Volume 61:Issue 7(2013:Jul.) Page Start: 1041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗