172 related articles for article (PubMed ID: 32334137)
1. Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.
Katz M; Davis M; Garton FC; Henderson R; Bharti V; Wray N; McCombe P
J Neurol Sci; 2020 Jun; 413():116809. PubMed ID: 32334137
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Houlden H; Laura M; Wavrant-De Vrièze F; Blake J; Wood N; Reilly MM
Neurology; 2008 Nov; 71(21):1660-8. PubMed ID: 18832141
[TBL] [Abstract][Full Text] [Related]
3. Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Haidar M; Asselbergh B; Adriaenssens E; De Winter V; Timmermans JP; Auer-Grumbach M; Juneja M; Timmerman V
Autophagy; 2019 Jun; 15(6):1051-1068. PubMed ID: 30669930
[TBL] [Abstract][Full Text] [Related]
4. A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
Amornvit J; Yalvac ME; Chen L; Sahenk Z
Brain Behav; 2017 Aug; 7(8):e00774. PubMed ID: 28828227
[TBL] [Abstract][Full Text] [Related]
5. Charcot-Marie-Tooth 2F (Hsp27 mutations): A review.
Schwartz NU
Neurobiol Dis; 2019 Oct; 130():104505. PubMed ID: 31212070
[TBL] [Abstract][Full Text] [Related]
6. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
Capponi S; Geroldi A; Fossa P; Grandis M; Ciotti P; Gulli R; Schenone A; Mandich P; Bellone E
J Peripher Nerv Syst; 2011 Dec; 16(4):287-94. PubMed ID: 22176143
[TBL] [Abstract][Full Text] [Related]
7. HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.
Heilman PL; Song S; Miranda CJ; Meyer K; Srivastava AK; Knapp A; Wier CG; Kaspar BK; Kolb SJ
Exp Neurol; 2017 Nov; 297():101-109. PubMed ID: 28797631
[TBL] [Abstract][Full Text] [Related]
8. Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E; Magri S; Meneri M; Manenti G; Velardo D; Balistreri F; Pisciotta C; Saveri P; Bresolin N; Comi GP; Ronchi D; Pareyson D; Taroni F; Corti S
Ann Clin Transl Neurol; 2021 May; 8(5):1158-1164. PubMed ID: 33943041
[TBL] [Abstract][Full Text] [Related]
9. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV; Mersiyanova I; Irobi J; Van Den Bosch L; Dierick I; Leung CL; Schagina O; Verpoorten N; Van Impe K; Fedotov V; Dadali E; Auer-Grumbach M; Windpassinger C; Wagner K; Mitrovic Z; Hilton-Jones D; Talbot K; Martin JJ; Vasserman N; Tverskaya S; Polyakov A; Liem RK; Gettemans J; Robberecht W; De Jonghe P; Timmerman V
Nat Genet; 2004 Jun; 36(6):602-6. PubMed ID: 15122254
[TBL] [Abstract][Full Text] [Related]
10. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
[TBL] [Abstract][Full Text] [Related]
11. Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Geuens T; De Winter V; Rajan N; Achsel T; Mateiu L; Almeida-Souza L; Asselbergh B; Bouhy D; Auer-Grumbach M; Bagni C; Timmerman V
Acta Neuropathol Commun; 2017 Jan; 5(1):5. PubMed ID: 28077174
[TBL] [Abstract][Full Text] [Related]
12. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.
Zhai J; Lin H; Julien JP; Schlaepfer WW
Hum Mol Genet; 2007 Dec; 16(24):3103-16. PubMed ID: 17881652
[TBL] [Abstract][Full Text] [Related]
13. A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.
Taga A; Cornblath DR
J Peripher Nerv Syst; 2020 Sep; 25(3):223-229. PubMed ID: 32639100
[TBL] [Abstract][Full Text] [Related]
14. Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in
Shen X; Zhang J; Zhan F; Tian W; Jiang Q; Luan X; Zhang X; Cao L
Biomolecules; 2022 Sep; 12(10):. PubMed ID: 36291591
[TBL] [Abstract][Full Text] [Related]
15. A novel HSPB1
Espinoza KS; Hermanson KN; Beard CA; Schwartz NU; Snider JM; Low BE; Wiles MV; Hannun YA; Obeid LM; Snider AJ
Prostaglandins Other Lipid Mediat; 2023 Dec; 169():106769. PubMed ID: 37625781
[TBL] [Abstract][Full Text] [Related]
16. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
Almeida-Souza L; Goethals S; de Winter V; Dierick I; Gallardo R; Van Durme J; Irobi J; Gettemans J; Rousseau F; Schymkowitz J; Timmerman V; Janssens S
J Biol Chem; 2010 Apr; 285(17):12778-86. PubMed ID: 20178975
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Tanabe H; Higuchi Y; Yuan JH; Hashiguchi A; Yoshimura A; Ishihara S; Nozuma S; Okamoto Y; Matsuura E; Ishiura H; Mitsui J; Takashima R; Kokubun N; Maeda K; Asano Y; Sunami Y; Kono Y; Ishigaki Y; Yanamoto S; Fukae J; Kida H; Morita M; Tsuji S; Takashima H
J Peripher Nerv Syst; 2018 Mar; 23(1):40-48. PubMed ID: 29381233
[TBL] [Abstract][Full Text] [Related]
18. Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK; Renusch SR; Naiman NE; Gu S; Sneh A; Arnold WD; Sahenk Z; Kolb SJ
Neurobiol Dis; 2012 Aug; 47(2):163-73. PubMed ID: 22521462
[TBL] [Abstract][Full Text] [Related]
19. Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Rossor AM; Morrow JM; Polke JM; Murphy SM; Houlden H; ; Laura M; Manji H; Blake J; Reilly MM
Neuromuscul Disord; 2017 Jan; 27(1):50-56. PubMed ID: 27816334
[TBL] [Abstract][Full Text] [Related]
20. Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
Naruse H; Okubo S; Sudo A; Mitsui J; Mikata T; Ishiura H; Morishita S; Tsuji S; Toda T
J Peripher Nerv Syst; 2023 Sep; 28(3):518-521. PubMed ID: 37249095
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]