318 related articles for article (PubMed ID: 24459106)
1. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Kornak U; Mademan I; Schinke M; Voigt M; Krawitz P; Hecht J; Barvencik F; Schinke T; Gießelmann S; Beil FT; Pou-Serradell A; Vílchez JJ; Beetz C; Deconinck T; Timmerman V; Kaether C; De Jonghe P; Hübner CA; Gal A; Amling M; Mundlos S; Baets J; Kurth I
Brain; 2014 Mar; 137(Pt 3):683-92. PubMed ID: 24459106
[TBL] [Abstract][Full Text] [Related]
2. ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F.
Xu H; Zhang C; Cao L; Song J; Xu X; Zhang B; Chen B; Zhao G
J Peripher Nerv Syst; 2019 Mar; 24(1):150-155. PubMed ID: 30680846
[TBL] [Abstract][Full Text] [Related]
3. A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
Fischer D; Schabhüttl M; Wieland T; Windhager R; Strom TM; Auer-Grumbach M
Brain; 2014 Jul; 137(Pt 7):e286. PubMed ID: 24736309
[No Abstract] [Full Text] [Related]
4. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
Spring PJ; Kok C; Nicholson GA; Ing AJ; Spies JM; Bassett ML; Cameron J; Kerlin P; Bowler S; Tuck R; Pollard JD
Brain; 2005 Dec; 128(Pt 12):2797-810. PubMed ID: 16311270
[TBL] [Abstract][Full Text] [Related]
5. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C; Zhu PP; Leonardis L; Papić L; Zidar J; Schabhüttl M; Strohmaier H; Weis J; Strom TM; Baets J; Willems J; De Jonghe P; Reilly MM; Fröhlich E; Hatz M; Trajanoski S; Pieber TR; Janecke AR; Blackstone C; Auer-Grumbach M
Am J Hum Genet; 2011 Jan; 88(1):99-105. PubMed ID: 21194679
[TBL] [Abstract][Full Text] [Related]
6. Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
Krols M; Detry S; Asselbergh B; Almeida-Souza L; Kremer A; Lippens S; De Rycke R; De Winter V; Müller FJ; Kurth I; McMahon HT; Savvides SN; Timmerman V; Janssens S
Cell Rep; 2018 May; 23(7):2026-2038. PubMed ID: 29768202
[TBL] [Abstract][Full Text] [Related]
7. Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux.
Barros P; Morais H; Santos C; Roriz J; Coutinho P
Arq Neuropsiquiatr; 2014 Apr; 72(4):269-72. PubMed ID: 24760089
[TBL] [Abstract][Full Text] [Related]
8. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.
Behrendt L; Kurth I; Kaether C
Cell Mol Life Sci; 2019 Apr; 76(7):1433-1445. PubMed ID: 30666337
[TBL] [Abstract][Full Text] [Related]
9. Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Krols M; Asselbergh B; De Rycke R; De Winter V; Seyer A; Müller FJ; Kurth I; Bultynck G; Timmerman V; Janssens S
Hum Mol Genet; 2019 Feb; 28(4):615-627. PubMed ID: 30339187
[TBL] [Abstract][Full Text] [Related]
10. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC; Hong YB; Nakhro K; Nam SH; Chung KW; Choi BO
Mol Med Rep; 2014 Feb; 9(2):481-6. PubMed ID: 24247255
[TBL] [Abstract][Full Text] [Related]
11. Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology.
Zhao G; Zhu PP; Renvoisé B; Maldonado-Báez L; Park SH; Blackstone C
Exp Cell Res; 2016 Nov; 349(1):32-44. PubMed ID: 27669642
[TBL] [Abstract][Full Text] [Related]
12. A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.
Mohammadi S; Jafari Khamirani H; Baneshi M; Kamal N; Manoocheri J; Saffar M; Dianatpour M; Tabei SMB; Dastgheib SA
Ann Hum Genet; 2023 Jul; 87(4):147-157. PubMed ID: 36856139
[TBL] [Abstract][Full Text] [Related]
13. Disease mechanisms in hereditary sensory and autonomic neuropathies.
Verpoorten N; De Jonghe P; Timmerman V
Neurobiol Dis; 2006 Feb; 21(2):247-55. PubMed ID: 16183296
[TBL] [Abstract][Full Text] [Related]
14. ATL3, a cargo receptor for reticulophagy.
Chen Q; Teng J; Chen J
Autophagy; 2019 Aug; 15(8):1465-1466. PubMed ID: 31032711
[TBL] [Abstract][Full Text] [Related]
15. The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Leonardis L; Auer-Grumbach M; Papić L; Zidar J
Eur J Neurol; 2012 Jul; 19(7):992-8. PubMed ID: 22340599
[TBL] [Abstract][Full Text] [Related]
16. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
Kok C; Kennerson ML; Spring PJ; Ing AJ; Pollard JD; Nicholson GA
Am J Hum Genet; 2003 Sep; 73(3):632-7. PubMed ID: 12870133
[TBL] [Abstract][Full Text] [Related]
17. Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.
Jung CL; Ki CS; Kim BJ; Lee JH; Sung KS; Kim JW; Park YS
J Child Neurol; 2013 Dec; 28(12):1668-72. PubMed ID: 23112235
[TBL] [Abstract][Full Text] [Related]
18. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Houlden H; King R; Blake J; Groves M; Love S; Woodward C; Hammans S; Nicoll J; Lennox G; O'Donovan DG; Gabriel C; Thomas PK; Reilly MM
Brain; 2006 Feb; 129(Pt 2):411-25. PubMed ID: 16364956
[TBL] [Abstract][Full Text] [Related]
19. ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Nizon M; Küry S; Péréon Y; Besnard T; Quinquis D; Boisseau P; Marsaud T; Magot A; Mussini JM; Mayrargue E; Barbarot S; Bézieau S; Isidor B
Clin Genet; 2018 Jan; 93(1):169-172. PubMed ID: 28471035
[TBL] [Abstract][Full Text] [Related]
20. Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy.
Behrendt L; Hoischen C; Kaether C
Neurobiol Dis; 2021 Jul; 155():105400. PubMed ID: 34019998
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
