Dr Juliane Mueller
Research Associate
- Email: juliane.mueller@ncl.ac.uk
- Telephone: +44 (0) 191 241 8833
- Address: Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
- Wagner M, Chaouch A, Muller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmuller H. Presymptomatic late-onset Pompe disease identified by the dried blood spot test.
Neuromuscular Disorders 2013, 23(1), 89-92.
- Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes: Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients.
Human Mutation 2012, 33(10), 1474-1484.
- Wood AJ, Muller JS, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V. Investigating basement membranes in FKRP and fukutin deficient zebrafish.
In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
- Wagner M, Laval S, Mueller J, Durmus H, Serdaroglu-Oflazer P, Lochmuller H. Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy.
In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
- Wood AJ, Muller JS, Jepson CD, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V. Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Human Molecular Genetics 2011, 20(24), 4879-4890.
- Barisic N, Chaouch A, Muller JS, Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
European Journal of Paediatric Neurology 2011, 15(3), 189-196.
- Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez Mallebrera C, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
American Journal of Human Genetics 2011, 88(2), 162-172.
- Wood AJ, Jepson CD, Laval SH, Bushby KM, Lochmuller H, Barresi R, Muller JS, Straub V. Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency.
In: Neuromuscular Disorders: 15th International Congress of the World Muscle Society. 2010, Kumamoto, Japan: Elsevier Ltd.
- Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Muller JS, Lochmuller H. Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Journal of Neurology, Neurosurgery and Psychiatry 2010, 81(9), 973-977.
- Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nurnberg G, Abicht A, Muller JS, Lochmuller H, Guergueltcheva V. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Neurology 2009, 73(22), 1926-1928.
- Muller JS, Mihaylova V, Abicht A, Lochmuller H. Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission.
Expert Reviews in Molecular Medicine 2007, 9(22), 1-20.
- Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y. Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Science 2006, 313(5795), 1975-1978.
- Muller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Muller-Felber W, Abicht A, Lochmuller H. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Neurology 2006, 67(7), 1159-1164.
- Skeie GO, Aurlien H, Muller JS, Lochmuller H, Norgard G, Bindoff LA. Unusual features in a boy with the rapsyn N88K mutation.
Neurology 2006, 67(12), 2262-2263.
- Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
Neurology 2005, 65(3), 463-465.
- Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A. An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
Journal of Neurology, Neurosurgery and Psychiatry 2005, 76(7), 1039-1040.
- Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
European Journal of Paediatric Neurology 2005, 9(1), 7-12.
- Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Neuropediatrics 2004, 35(3), 183-189.
