Scherer SW - Search Results

1

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE. Hadano S, et al. Among authors: scherer sw. Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166. Nat Genet. 2001. PMID: 11586298

2

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: scherer sw. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710

3

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.

Hadano S, Nichol K, Brinkman RR, Nasir J, Martindale D, Koop BF, Nicholson DW, Scherer SW, Ikeda JE, Hayden MR. Hadano S, et al. Among authors: scherer sw. Genomics. 1999 Jan 1;55(1):106-12. doi: 10.1006/geno.1998.5637. Genomics. 1999. PMID: 9889004

4

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. Kobayashi K, et al. Among authors: scherer sw. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667. Nat Genet. 1999. PMID: 10369257

5

p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.

Mansour SJ, Skaug J, Zhao XH, Giordano J, Scherer SW, Melançon P. Mansour SJ, et al. Among authors: scherer sw. Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):7968-73. doi: 10.1073/pnas.96.14.7968. Proc Natl Acad Sci U S A. 1999. PMID: 10393931 Free PMC article.

6

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).

Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P. Tonachini L, et al. Among authors: scherer sw. Cytogenet Cell Genet. 1999;87(3-4):191-4. doi: 10.1159/000015463. Cytogenet Cell Genet. 1999. PMID: 10702664

7

The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.

Vincent JB, Skaug J, Scherer SW. Vincent JB, et al. Among authors: scherer sw. DNA Res. 2000 Jun 30;7(3):233-5. doi: 10.1093/dnares/7.3.233. DNA Res. 2000. PMID: 10907856 Free article. No abstract available.

8

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. Minassian BA, et al. Among authors: scherer sw. Neurology. 2000 Aug 8;55(3):341-6. doi: 10.1212/wnl.55.3.341. Neurology. 2000. PMID: 10932264

9

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Smith AN, et al. Among authors: scherer sw. Nat Genet. 2000 Sep;26(1):71-5. doi: 10.1038/79208. Nat Genet. 2000. PMID: 10973252

10

Small GTPase Rac1: structure, localization, and expression of the human gene.

Matos P, Skaug J, Marques B, Beck S, Veríssimo F, Gespach C, Boavida MG, Scherer SW, Jordan P. Matos P, et al. Among authors: scherer sw. Biochem Biophys Res Commun. 2000 Nov 2;277(3):741-51. doi: 10.1006/bbrc.2000.3743. Biochem Biophys Res Commun. 2000. PMID: 11062023

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