1. A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Issue 1 (14th September 2021) Authors: Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Heir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara‐Schmidt, Ulrike; Roos, Andreas Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A National Spinal Muscular Atrophy Registry for Real-World Evidence. (4th November 2020) Authors: Hodgkinson, Victoria L.; Oskoui, Maryam; Lounsberry, Joshua; M'Dahoma, Saïd; Butler, Emily; Campbell, Craig; MacKenzie, Alex; McMillan, Hugh J.; Simard, Louise; Vajsar, Jiri; Brais, Bernard; Chapman, Kristine M.; Chrestian, Nicolas; Crone, Meghan; Dobrowolski, Peter; Dojeiji, Susan; Dowling, Jame... Journal: Canadian journal of neurological sciences Issue: Volume 47:Number 6(2020) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. (19th January 2018) Authors: Bartsakoulia, Marina; Pyle, Angela; Troncoso-Chandía, Diego; Vial-Brizzi, Josefa; Paz-Fiblas, Marysol V; Duff, Jennifer; Griffin, Helen; Boczonadi, Veronika; Lochmüller, Hanns; Kleinle, Stephanie; Chinnery, Patrick F; Grünert, Sarah; Kirschner, Janbernd; Eisner, Verónica; Horvath, Rita Journal: Human molecular genetics Issue: Volume 27:Number 7(2018:Apr. 01) Page Start: 1186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. (30th April 2019) Authors: Lochmüller, Hanns; Behin, Anthony; Caraco, Yoseph; Lau, Heather; Mirabella, Massimiliano; Tournev, Ivailo; Tarnopolsky, Mark; Pogoryelova, Oksana; Woods, Catherine; Lai, Alexander; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Mansbach, Hank; Kakkis, Emil; Mozaffar, Tahseen Journal: Neurology Issue: Volume 92:Number 18(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Activities of daily living in myotonic dystrophy type 1. (21st January 2020) Authors: Landfeldt, Erik; Nikolenko, Nikoletta; Jimenez‐Moreno, Cecilia; Cumming, Sarah; Monckton, Darren G.; Faber, Catharina G.; Merkies, Ingemar S.J.; Gorman, Grainne; Turner, Chris; Lochmüller, Hanns Journal: Acta neurologica Scandinavica Issue: Volume 141:Number 5(2020) Page Start: 380 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Issue 2 (29th October 2011) Authors: Horvath, Rita; Czermin, Birgit; Gulati, Sweena; Demuth, Stephanie; Houge, Gunnar; Pyle, Angela; Dineiger, Christine; Blakely, Emma L; Hassani, Adam; Foley, Charlotte; Brodhun, Michael; Storm, Karin; Kirschner, Janbernd; Gorman, Grainne S; Lochmüller, Hanns; Holinski-Feder, Elke; Taylor, Robert W;... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 2(2012) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Issue 6 (June 2020) Authors: Thompson, Rachel; Spendiff, Sally; Roos, Andreas; Bourque, Pierre R; Warman Chardon, Jodi; Kirschner, Janbernd; Horvath, Rita; Lochmüller, Hanns Journal: Lancet neurology Issue: Volume 19:Issue 6(2020) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies. Issue 7 (11th June 2014) Authors: Ayoglu, Burcu; Chaouch, Amina; Lochmüller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H; Gualandi, Francesca; Pontén, Fredrik; Bushby, Kate; Aartsma‐Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlén, Mathias; Cirak, Sebahattin; 't ... Journal: EMBO molecular medicine Issue: Volume 6:Issue 7(2014:Jul.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Analysis of the functional capacity outcome measures for myotonic dystrophy. Issue 8 (22nd July 2019) Authors: Jimenez‐Moreno, Aura Cecilia; Nikolenko, Nikoletta; Kierkegaard, Marie; Blain, Alasdair P.; Newman, Jane; Massey, Charlotte; Moat, Dionne; Sodhi, Jas; Atalaia, Antonio; Gorman, Grainne S.; Turner, Chris; Lochmüller, Hanns Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 8(2019) Page Start: 1487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy. Issue 24 (20th November 2019) Authors: Jimenez-Moreno, Aura Cecilia; Charman, Sarah J.; Nikolenko, Nikoletta; Larweh, Maxwell; Turner, Chris; Gorman, Grainne; Lochmüller, Hanns; Catt, Michael Journal: Disability and rehabilitation Issue: Volume 41:Issue 24(2019) Page Start: 2972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗