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Presymptomatic late-onset Pompe disease identified by the dried blood spot test.
Wagner M, Chaouch A, Müller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmüller H. Wagner M, et al. Among authors: chaouch a. Neuromuscul Disord. 2013 Jan;23(1):89-92. doi: 10.1016/j.nmd.2012.09.004. Epub 2012 Oct 10. Neuromuscul Disord. 2013. PMID: 23062590
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: chaouch a. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Chaouch A, et al. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2. J Neurol Neurosurg Psychiatry. 2014. PMID: 24695763 Free PMC article.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Chaouch A, et al. J Neuromuscul Dis. 2014;1(1):75-90. doi: 10.3233/JND-140021. J Neuromuscul Dis. 2014. PMID: 26870663 Free PMC article.
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C. Ayoglu B, et al. Among authors: chaouch a. EMBO Mol Med. 2014 Jul;6(7):918-36. doi: 10.15252/emmm.201303724. EMBO Mol Med. 2014. PMID: 24920607 Free PMC article.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: chaouch a. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).
Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmüller H, Ginjaar HB, Aartsma-Rus AM, van Ommen GJ, den Dunnen JT, 't Hoen PA. Nadarajah VD, et al. Among authors: chaouch a. Neuromuscul Disord. 2011 Aug;21(8):569-78. doi: 10.1016/j.nmd.2011.05.011. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21724396 Free article.
107 results