BASELINE DATA ANALYSIS OF NATURAL HISTORY STUDY IN HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) SECONDARY TO SPTLC1/2 MUTATIONS

被引:0
|
作者
Kugathasan, U. [1 ]
Laura, M. [1 ]
Evans, M. [1 ]
Sinclair, C. [1 ,2 ]
Homemann, T. [3 ]
Suriyanarayanan, S. [3 ]
Skorupinska, M. [1 ]
Bull, K. [1 ]
Phadke, R. [4 ]
Miller, K. [4 ]
Lauria, G. [5 ]
Lombardi, R. [5 ]
Bennett, D. [6 ]
Blake, J. [7 ]
Reilly, M. M. [1 ]
机构
[1] UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England
[2] UCL Inst Neurol, Acad Neuroradiol Unit, Dept Brain Repair & Rehabil, London, England
[3] Univ Zurich Hosp, Inst Clin Chem, Zurich, Switzerland
[4] Natl Hosp Neurol & Neurosurg, Div Neuropathol, London WC1N 3BG, England
[5] IRCCS Fdn Carlo Besta Neurol Inst, Neurol Unit 3, Milan, Italy
[6] Nuffield Dept Clin Neurosci, Oxford, England
[7] Norfolk & Norwich Hosp, Dept Clin Neurophysiol, Norwich NR1 3SR, Norfolk, England
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:175 / 175
页数:1
相关论文
共 50 条
  • [31] Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
    Hines, Timothy J.
    Tadenev, Abigail L. D.
    Lone, Museer A.
    Hatton, Courtney L.
    Bagasrawala, Inseyah
    Stum, Morgane G.
    Miers, Kathy E.
    Hornemann, Thorsten
    Burgess, Robert W.
    JOURNAL OF ANATOMY, 2022, 241 (05) : 1169 - 1185
  • [32] Cellular pathomechanisms of hereditary sensory neuropathy type 1 (HSN-1) in mammalian motor neurons
    Wilson, E.
    Kalmar, B.
    Kugathasan, M.
    Abramov, A.
    Reilly, M. M.
    Greensmith, L.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S29 - S29
  • [33] CELLULAR PATHOMECHANISMS OF HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN-1) IN MAMMALIAN MOTOR NEURONS
    Wilson, E.
    Kalmar, B.
    Kugathasan, M.
    Abramov, A.
    Reilly, M. M.
    Greensmith, L.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 311 - 312
  • [34] Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
    Murphy, Sinead M.
    Ernst, Daniela
    Wei, Yu
    Laura, Matilde
    Liu, Yo-Tsen
    Polke, James
    Blake, Julian
    Winer, John
    Houlden, Henry
    Hornemann, Thorsten
    Reilly, Mary M.
    NEUROLOGY, 2013, 80 (23) : 2106 - 2111
  • [35] Mutations in the SPTLC1 protein, causing hereditary sensory neuropathy type 1, show altered localisation of cytoskeletal proteins in transiently transfected SH-SY5Y neuroblastoma cells.
    Myers, S
    Kennerson, M
    Nicholson, G
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S191 - S192
  • [36] Calcium mediated calpain activation and microtubule dissociation in hereditary sensory neuropathy-1A expressing V144D SPTLC1 mutation
    Shanu, Anu
    Ng, Neville
    Lauto, Antonio
    Coorssen, Jens
    Myers, Simon
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 513 - 513
  • [37] Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
    Shekarabi, Masoud
    Girard, Nathalie
    Riviere, Jean-Baptiste
    Dion, Patrick
    Houle, Martin
    Toulouse, Andre
    Lafreniere, Ronald G.
    Vercauteren, Freya
    Hince, Pascale
    Laganiere, Janet
    Rochefort, Daniel
    Faivre, Laurence
    Samuels, Mark
    Rouleau, Guy A.
    JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (07): : 2496 - 2505
  • [38] Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation
    Antony, Anu
    Ng, Neville
    Lauto, Antonio
    Coorssen, Jens R.
    Myers, Simon J.
    DNA AND CELL BIOLOGY, 2022, 41 (02) : 225 - 234
  • [39] SPHINGOLIPID SERUM ANALYSIS ASSISTS IN THE DIAGNOSIS OF SPTLC2 CAUSING HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE 1C
    Triplett, James
    Klein, Christopher
    Niu, Zhiyv
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S49 - S50
  • [40] A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2
    Potulska-Chromik, Anna
    Kabzinska, Dagmara
    Lipowska, Marta
    Kostera-Pruszczyk, Anna
    Kochanski, Andrzej
    ACTA BIOCHIMICA POLONICA, 2012, 59 (03) : 413 - 415