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Items: 1 to 20 of 24

1.

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
2.
3.

[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. Epub 2011 May 6. Review. French.

PMID:
21529868
4.

Hereditary sensory neuropathy type I.

Auer-Grumbach M.

Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Review.

5.

[A case of hereditary motor and sensory neuropathy type I with optic atrophy, neural deafness and pyramidal tract signs].

Saito T, Nishioka M, Ogino M, Endo K, Kowa H.

Rinsho Shinkeigaku. 1993 May;33(5):519-24. Review. Japanese.

PMID:
8365058
6.

Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

Ito D, Suzuki N.

Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Review.

PMID:
18790819
7.

GARS-Associated Axonal Neuropathy.

Goldfarb LG, Sivakumar K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Nov 8 [updated 2011 Aug 25].

8.

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
9.

The distal hereditary motor neuropathies.

Rossor AM, Kalmar B, Greensmith L, Reilly MM.

J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. Review.

PMID:
22028385
10.

Molecular genetics of distal hereditary motor neuropathies.

Irobi J, De Jonghe P, Timmerman V.

Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review.

PMID:
15358725
11.

Sporadic lower motor neuron disease with adult onset: classification of subtypes.

van den Berg-Vos RM, Visser J, Franssen H, de Visser M, de Jong JM, Kalmijn S, Wokke JH, van den Berg LH.

Brain. 2003 May;126(Pt 5):1036-47. Review.

PMID:
12690044
12.

Charcot-Marie-tooth disease.

Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G.

Foot Ankle Spec. 2008 Dec;1(6):350-4. doi: 10.1177/1938640008326247. Epub 2008 Oct 22. Review.

PMID:
19825739
13.

GARS axonopathy: not every neuron's cup of tRNA.

Motley WW, Talbot K, Fischbeck KH.

Trends Neurosci. 2010 Feb;33(2):59-66. doi: 10.1016/j.tins.2009.11.001. Review.

14.

[Distal spinal muscular atrophy].

Sevilla T.

Neurologia. 1996 Dec;11 Suppl 5:58-65. Review. Spanish.

PMID:
9044574
15.

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.

Auer-Grumbach M, De Jonghe P, Verhoeven K, Timmerman V, Wagner K, Hartung HP, Nicholson GA.

Arch Neurol. 2003 Mar;60(3):329-34. Review.

PMID:
12633143
16.

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.

Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M.

Adv Exp Med Biol. 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13. Review.

PMID:
20225027
17.

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM.

Neurology. 2016 Oct 11;87(15):1607-1612. Epub 2016 Sep 14. Review.

18.

[Update on hereditary neuropathy].

Nakagawa M, Takashima H.

Rinsho Shinkeigaku. 2004 Nov;44(11):991-4. Review. Japanese.

PMID:
15651351
19.

[Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review].

Makhoul J, Cordonnier M, Van Nechel C.

Bull Soc Belge Ophtalmol. 2002;(286):9-14. Review. French.

PMID:
12564312
20.

Emerging pathways for hereditary axonopathies.

Züchner S, Vance JM.

J Mol Med (Berl). 2005 Dec;83(12):935-43. Epub 2005 Aug 31. Review.

PMID:
16133422

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