Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 76

1.

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J.

Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.

PMID:
25274842
2.

The small heat shock protein HspB8: role in nervous system physiology and pathology.

Vicario M, Skaper SD, Negro A.

CNS Neurol Disord Drug Targets. 2014;13(5):885-95. Review.

PMID:
25012617
3.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T.

Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30.

PMID:
24789864
4.

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1265-72. doi: 10.1136/jnnp-2013-306740. Epub 2014 Mar 6.

PMID:
24604904
5.

REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.

Hurt CM, Björk S, Ho VK, Gilsbach R, Hein L, Angelotti T.

Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16.

6.

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P.

Eur J Hum Genet. 2014 Jun;22(6):847-50. doi: 10.1038/ejhg.2013.231. Epub 2013 Oct 9.

PMID:
24105373
7.

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.

8.

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
9.

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.

10.

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.

11.

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
12.

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.

13.

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
14.

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.

15.

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
16.

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
17.

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.

18.

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
19.

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.

20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk