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Results: 1 to 20 of 70

1.

Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

Novoselov SS, Mustill WJ, Gray AL, Dick JR, Kanuga N, Kalmar B, Greensmith L, Cheetham ME.

PLoS One. 2013 Aug 30;8(8):e73944. doi: 10.1371/journal.pone.0073944. eCollection 2013.

PMID:
24023695
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW.

Neuromuscul Disord. 2013 Aug;23(8):656-63. doi: 10.1016/j.nmd.2013.05.009. Epub 2013 Jun 21.

PMID:
23796487
[PubMed - indexed for MEDLINE]
3.

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

Holmgren A, Bouhy D, De Winter V, Asselbergh B, Timmermans JP, Irobi J, Timmerman V.

Acta Neuropathol. 2013 Jul;126(1):93-108. doi: 10.1007/s00401-013-1133-6. Epub 2013 Jun 1.

PMID:
23728742
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Inborn errors of copper metabolism.

Kaler SG.

Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Review.

PMID:
23622398
[PubMed - indexed for MEDLINE]
5.

Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

Lee HJ, Park J, Nakhro K, Park JM, Hur YM, Choi BO, Chung KW.

J Peripher Nerv Syst. 2012 Dec;17(4):418-21. doi: 10.1111/j.1529-8027.2012.00442.x.

PMID:
23279345
[PubMed - indexed for MEDLINE]
6.

Defective presynaptic choline transport underlies hereditary motor neuropathy.

Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.

Am J Hum Genet. 2012 Dec 7;91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.

PMID:
23141292
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Spinal Charcot-Marie-Tooth disease: a reappraisal.

Devic P, Petiot P, Mauguière F.

Muscle Nerve. 2012 Oct;46(4):604-9. doi: 10.1002/mus.23456. Review.

PMID:
22987707
[PubMed - indexed for MEDLINE]
8.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG.

Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29.

PMID:
22933740
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

PMID:
22851605
[PubMed - indexed for MEDLINE]
10.

A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.

Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x.

PMID:
22734906
[PubMed - indexed for MEDLINE]
11.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M.

Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.

PMID:
22703882
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.

Irobi J, Holmgren A, De Winter V, Asselbergh B, Gettemans J, Adriaensen D, Ceuterick-de Groote C, Van Coster R, De Jonghe P, Timmerman V.

Neuromuscul Disord. 2012 Aug;22(8):699-711. doi: 10.1016/j.nmd.2012.04.005. Epub 2012 May 15.

PMID:
22595202
[PubMed - indexed for MEDLINE]
13.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.

Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H.

Neurology. 2012 May 22;78(21):1644-9. doi: 10.1212/WNL.0b013e3182574f8f. Epub 2012 May 9.

PMID:
22573628
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L.

Ann Neurol. 2012 Apr;71(4):509-19. doi: 10.1002/ana.22684.

PMID:
22522442
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1016/j.nbd.2012.03.035. Epub 2012 Apr 11.

PMID:
22521462
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A.

Neuromuscul Disord. 2012 Jun;22(6):511-21. doi: 10.1016/j.nmd.2012.01.011. Epub 2012 Apr 2.

PMID:
22475618
[PubMed - indexed for MEDLINE]
17.

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. doi: 10.1111/j.1529-8027.2011.00361.x.

PMID:
22176143
[PubMed - indexed for MEDLINE]
18.

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes.

Kwok AS, Phadwal K, Turner BJ, Oliver PL, Raw A, Simon AK, Talbot K, Agashe VR.

J Neurochem. 2011 Dec;119(6):1155-61. doi: 10.1111/j.1471-4159.2011.07521.x. Epub 2011 Nov 3.

PMID:
21985219
[PubMed - indexed for MEDLINE]
19.

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.

Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N.

Hum Mol Genet. 2011 Oct 1;20(19):3831-40. doi: 10.1093/hmg/ddr304. Epub 2011 Jul 12.

PMID:
21750110
[PubMed - indexed for MEDLINE]
Free Article
20.

Addendum to 'Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'.

Rouleau GA.

Clin Genet. 2011 Jun;79(6):601-3. doi: 10.1111/j.1399-0004.2011.01665.x. No abstract available.

PMID:
21542836
[PubMed - indexed for MEDLINE]

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