1. ADRENERGIC SIGNALLING AND CONGENITAL MYASTHENIC SYNDROMES. Issue 12 (15th November 2016) Authors: McMacken, Grace; Lochmuller, Hanns Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 12(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Issue 4 (3rd March 2019) Authors: Dominov, Janice A.; Uyan, Özgün; McKenna‐Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmuller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Issue 10 (1st October 2001) Authors: Jaksch, Michaela; Kleinle, Stephanie; Scharfe, Curt; Klopstock, Thomas; Pongratz, Dieter; Müller-Höcker, Josef; Gerbitz, Klaus-D; Liechti-Gallati, Sabina; Lochmuller, Hanns; Horvath, Rita Journal: Journal of medical genetics Issue: Volume 38:Issue 10(2001) Page Start: 665 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular characterization of congenital myasthenic syndromes in Spain. (June 2017) Authors: Natera-de Benito, Daniel; Topf, Ana; Dominguez-Carral, Jana; Vilchez, Juan Jesus; Diaz Manera, Jorge Alberto; Ortez, Carlos; Oferil, Jaume Colomer; Lochmuller, Hanns; Nascimento, Andres Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Issue 10 (7th May 2018) Authors: Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramar... Other Names: author non-byline.; Arrieta Adrienne author non-byline.; Feng Jia author non-byline.; Hwang Esther author non-byline.; Lee Elaine author non-byline.; Illa Isabel author non-byline.; Gallardo Eduard author non-byline.; Hernández Irene Pedrosa author non-byline.; Jimeno Izaskun Belmonte author non... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 10(2018) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Issue 6 (4th April 2019) Authors: Ricci, Giulia; Cammish, Philip; Siciliano, Gabriele; Tupler, Rossella; Lochmuller, Hanns; Evangelista, Teresinha Journal: Muscle & nerve Issue: Volume 59:Issue 6(2019) Page Start: 711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PO167 Adrenergic signalling and congenital myasthenic syndromes. (1st December 2017) Authors: McMacken, Grace; Spendiff, Sally; Howarth, Rachel; Cox, Dan; Slater, Clarke; Roos, Andreas; Whittaker, Roger; Lochmuller, Hanns Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88(2017)Supplement 1 Page Start: A56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. Issue 6 (20th November 2017) Authors: Wang, Youjin; Pfeiffer, Ruth M.; Alsaggaf, Rotana; Meeraus, Wilhelmine; Gage, Julia C.; Anderson, Lesley A.; Bremer, Renée C.; Nikolenko, Nikoletta; Lochmuller, Hanns; Greene, Mark H.; Gadalla, Shahinaz M. Journal: International journal of cancer Issue: Volume 142:Issue 6(2018) Page Start: 1174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. S53. Pattern of decrement in a large cohort of genetically confirmed congenital myasthenic syndromes from a single quaternary center. (May 2018) Authors: Preethish-Kumar, Veeramani; Nalini, Atchayaram; Topf, Ana; Lochmuller, Hanns Journal: Clinical neurophysiology Issue: Volume 129(2018)Supplement 1 Page Start: e161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗