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Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: suriyanarayanan s. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E. Suriyanarayanan S, et al. Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16. Neuromolecular Med. 2016. PMID: 26573920
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: suriyanarayanan s. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F. Fridman V, et al. Among authors: suriyanarayanan s. Neurology. 2019 Jan 22;92(4):e359-e370. doi: 10.1212/WNL.0000000000006811. Epub 2019 Jan 9. Neurology. 2019. PMID: 30626650 Free PMC article. Clinical Trial.
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. Kugathasan U, et al. Among authors: suriyanarayanan s. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17. J Neurol Neurosurg Psychiatry. 2019. PMID: 30995999 Free article.
51 results