Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 130

1.

Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis.

Rooke K, Figlewicz DA, Han FY, Rouleau GA.

Neurology. 1996 Mar;46(3):789-90.

PMID:
8618684
2.

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.

Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP.

Hum Mol Genet. 1994 Oct;3(10):1757-61.

PMID:
7849698
3.

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).

Tomkins J, Usher P, Slade JY, Ince PG, Curtis A, Bushby K, Shaw PJ.

Neuroreport. 1998 Dec 1;9(17):3967-70.

PMID:
9875737
4.

Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis.

Vechio JD, Bruijn LI, Xu Z, Brown RH Jr, Cleveland DW.

Ann Neurol. 1996 Oct;40(4):603-10.

PMID:
8871580
5.

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.

Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN.

Hum Mol Genet. 1999 Feb;8(2):157-64.

PMID:
9931323
6.

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.

Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, Camu W, Rouleau GA.

Can J Neurol Sci. 1998 Aug;25(3):192-6.

PMID:
9706719
7.

Familial amyotrophic lateral sclerosis.

Siddique T, Hentati A.

Clin Neurosci. 1995-1996;3(6):338-47. Review.

PMID:
9021255
9.

Neurofilaments in health and disease.

Julien JP, Mushynski WE.

Prog Nucleic Acid Res Mol Biol. 1998;61:1-23. Review.

PMID:
9752717
10.

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.

Ann Neurol. 1997 Feb;41(2):210-21.

PMID:
9029070
11.

Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.

Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ.

Eur J Hum Genet. 1999 Jul;7(5):599-602.

12.

Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation.

Tan CF, Piao YS, Hayashi S, Obata H, Umeda Y, Sato M, Fukushima T, Nakano R, Tsuji S, Takahashi H.

Acta Neuropathol. 2004 Oct;108(4):332-6. Epub 2004 Jul 3.

PMID:
15235802
13.

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).

Skvortsova V, Shadrina M, Slominsky P, Levitsky G, Kondratieva E, Zherebtsova A, Levitskaya N, Alekhin A, Serdyuk A, Limborska S.

Eur J Hum Genet. 2004 Mar;12(3):241-4.

14.

Familial amyotrophic lateral sclerosis.

Siddique T, Nijhawan D, Hentati A.

J Neural Transm Suppl. 1997;49:219-33. Review.

PMID:
9266431
15.

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun;4(2):62-73.

PMID:
14506936
16.

Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation.

Kokubo Y, Kuzuhara S, Narita Y, Kikugawa K, Nakano R, Inuzuka T, Tsuji S, Watanabe M, Miyazaki T, Murayama S, Ihara Y.

Arch Neurol. 1999 Dec;56(12):1506-8.

PMID:
10593307
17.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, Esteban J, Hayward LJ, Mckenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH Jr.

Neuromuscul Disord. 1996 Oct;6(5):361-6.

PMID:
8938700
18.

Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions.

Takehisa Y, Ujike H, Ishizu H, Terada S, Haraguchi T, Tanaka Y, Nishinaka T, Nobukuni K, Ihara Y, Namba R, Yasuda T, Nishibori M, Hayabara T, Kuroda S.

Arch Neurol. 2001 May;58(5):736-40.

PMID:
11346368
19.

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA.

Arch Neurol. 2003 Dec;60(12):1768-71.

PMID:
14676054
20.

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes.

Ince PG, Shaw PJ, Slade JY, Jones C, Hudgson P.

Acta Neuropathol. 1996 Oct;92(4):395-403. Review.

PMID:
8891072

Supplemental Content

Support Center