LATE ONSET HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) CAUSED BY A NOVEL P.C133R MISSENSE MUTATION IN SPTLC1

被引：0

作者：

Rautenstrauss, B. ^{[1
,2
]}

Neitzel, B. ^{[1
]}

Muench, C. ^{[3
]}

Haas, J. ^{[3
]}

Holinski-Feder, E. ^{[1
]}

Abicht, A. ^{[1
,2
]}

机构：

[1] Ctr Med Genet, Munich, Germany

[2] Univ Munich, Friedrich Baur Inst, D-80539 Munich, Germany

[3] Jewish Hosp Berlin, Berlin, Germany

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2009年 / 14卷

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

页码：124 / 125

页数：2

共 50 条

[31] 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
[32] 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
[33] The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
Fiorillo, Chiara
Capodivento, Giovanna
Geroldi, Alessandro
Tozza, Stefano
Moroni, Isabella
Mohassel, Payam
Cataldi, Matteo
Campana, Chiara
Morando, Simone
Panicucci, Chiara
Pedemonte, Marina
Brolatti, Noemi
Siliquini, Sabrina
Traverso, Monica
Baratto, Serena
Debellis, Doriana
Magri, Stefania
Prada, Valeria
Bellone, Emilia
Salpietro, Vincenzo
Donkervoort, Sandra
Gable, Kenneth
Gupta, Sita D.
Dunn, Teresa M.
Bonnemann, Carsten G.
Taroni, Franco
Bruno, Claudio
Schenone, Angelo
Mandich, Paola
Nobbio, Lucilla
Nolano, Maria
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2022, 48 (07)
[34] Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2-implications for retinal screening in HSN1
Rodrigues, Filipa Gomes
Pipis, Menelaos
Heeren, Tjebo F. C.
Fruttiger, Marcus
Gantner, Mari
Vermeirsch, Sandra
Okada, Mali
Friedlander, Martin
Reilly, Mary M.
Egan, Catherine
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 (03) : 215 - 224
[35] 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
[36] 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
[37] SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
Lone, Museer A.
Zeng, Sen
Bourquin, Florence
Wang, Mengli
Huang, Shunxiang
Lin, Zhiqiang
Tang, Beisha
Zhang, Ruxu
Hornemann, Thorsten
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 2023, 1868 (09):
[38] A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
Ma, Siqing
Ji, Chunbo
Li, Jinlan
Zhou, Jie
Zhu, Jianying
Yang, Ping
JOURNAL OF HUMAN GENETICS, 2025, 70 (04) : 223 - 226
[39] DENOVO MUTATION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-1
HOOGENDIJK, JE
HENSELS, GW
GABREELSFESTEN, AAWM
GABREELS, FJM
JANSSEN, EAM
DEJONGHE, P
MARTIN, JJ
VAN BROECKHOVEN, C
VALENTIJN, LJ
BAAS, F
DEVISSER, M
BOLHUIS, PA
LANCET, 1992, 339 (8801): : 1081 - 1082
[40] A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C
Saranya Suriyanarayanan
Alaa Othman
Bianca Dräger
Anja Schirmacher
Peter Young
Lejla Mulahasanovic
Konstanze Hörtnagel
Saskia Biskup
Arnold von Eckardstein
Thorsten Hornemann
Museer A. Lone
NeuroMolecular Medicine, 2019, 21 : 182 - 191

← 1 2 3 4 5 →