Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 109

1.

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
2.

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.

PMID:
25274842
4.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a.

PMID:
18463364
5.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L.

Neurology. 2006 Jul 11;67(1):120-4.

PMID:
16728649
6.

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E.

Neurology. 2006 Jun 13;66(11):1721-6. Erratum in: Neurology. 2006 Aug 22;67(4):727.

PMID:
16769947
7.
8.

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.

Ottaviani D, Marin O, Arrigoni G, Franchin C, Vilardell J, Sandre M, Li W, Parfitt DA, Pinna LA, Cheetham ME, Ruzzene M.

Hum Mol Genet. 2016 Dec 28. pii: ddw420. doi: 10.1093/hmg/ddw420. [Epub ahead of print]

9.

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L.

Ann Neurol. 2000 Dec;48(6):877-84.

PMID:
11117544
10.

Neuronal DnaJ proteins HSJ1a and HSJ1b: a role in linking the Hsp70 chaperone machine to the ubiquitin-proteasome system?

Chapple JP, van der Spuy J, Poopalasundaram S, Cheetham ME.

Biochem Soc Trans. 2004 Aug;32(Pt 4):640-2.

PMID:
15270696
11.

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.

Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A; French Research Network on FTD/FTD-MND..

Neurology. 2009 May 12;72(19):1669-76. doi: 10.1212/WNL.0b013e3181a55f1c.

PMID:
19433740
12.

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C.

Am J Hum Genet. 2007 Jul;81(1):67-76.

13.

Hsp40 molecules that target to the ubiquitin-proteasome system decrease inclusion formation in models of polyglutamine disease.

Howarth JL, Kelly S, Keasey MP, Glover CP, Lee YB, Mitrophanous K, Chapple JP, Gallo JM, Cheetham ME, Uney JB.

Mol Ther. 2007 Jun;15(6):1100-5.

PMID:
17426712
14.

Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype.

Haberlová J, Claeys KG, De Jonghe P, Seeman P.

Neuromuscul Disord. 2009 Jun;19(6):427-8. doi: 10.1016/j.nmd.2009.03.005.

PMID:
19409784
15.

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).

James PA, Rankin J, Talbot K.

J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):461-3. doi: 10.1136/jnnp.2007.125179.

PMID:
18344398
16.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

17.

Late-onset lower motor neuronopathy: a new autosomal dominant disorder.

Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B.

Neurology. 2011 Jul 26;77(4):334-40. doi: 10.1212/WNL.0b013e3182267b71.

PMID:
21715705
18.

Hereditary pure lower motor neuron disease with adult onset and rapid progression.

Van den Berg-Vos RM, Van den Berg LH, Jansen GH, Parton M, Shaw CE, Hesseling-Janssen AL, Wokke JH.

J Neurol. 2001 Apr;248(4):290-6.

PMID:
11374093
19.

[Distal hereditary motor neuropathy].

Devic P, Petiot P.

Rev Neurol (Paris). 2011 Nov;167(11):781-90. doi: 10.1016/j.neurol.2011.03.003. Review. French.

PMID:
21529868
20.

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S.

Nat Genet. 2001 Sep;29(1):83-7.

PMID:
11528398
Items per page

Supplemental Content

Support Center