Kilimann MW - Search Results

1

Amphiphysin autoimmunity: paraneoplastic accompaniments.

Pittock SJ, Lucchinetti CF, Parisi JE, Benarroch EE, Mokri B, Stephan CL, Kim KK, Kilimann MW, Lennon VA. Pittock SJ, et al. Among authors: kilimann mw. Ann Neurol. 2005 Jul;58(1):96-107. doi: 10.1002/ana.20529. Ann Neurol. 2005. PMID: 15984030

2

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M. Ziemssen F, et al. Among authors: kilimann mw. Ann Neurol. 2000 Apr;47(4):536-40. Ann Neurol. 2000. PMID: 10762170

3

Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.

Yamamoto R, Li X, Winter S, Francke U, Kilimann MW. Yamamoto R, et al. Among authors: kilimann mw. Hum Mol Genet. 1995 Feb;4(2):265-8. doi: 10.1093/hmg/4.2.265. Hum Mol Genet. 1995. PMID: 7757077

4

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: kilimann mw. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549

5

The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer.

De Camilli P, Thomas A, Cofiell R, Folli F, Lichte B, Piccolo G, Meinck HM, Austoni M, Fassetta G, Bottazzo G, Bates D, Cartlidge N, Solimena M, Kilimann MW, et al. De Camilli P, et al. Among authors: kilimann mw. J Exp Med. 1993 Dec 1;178(6):2219-23. doi: 10.1084/jem.178.6.2219. J Exp Med. 1993. PMID: 8245793 Free PMC article.

6

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. Among authors: kilimann mw. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.

7

Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy.

Yamamoto R, Li X, Francke U, Kilimann MW. Yamamoto R, et al. Among authors: kilimann mw. Am J Hum Genet. 1995 Oct;57(4):970-2. Am J Hum Genet. 1995. PMID: 7573063 Free PMC article. No abstract available.

8

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Davidson JJ, Ozçelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW. Davidson JJ, et al. Among authors: kilimann mw. Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2096-100. doi: 10.1073/pnas.89.6.2096. Proc Natl Acad Sci U S A. 1992. PMID: 1372435 Free PMC article.

9

Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Francke U, Darras BT, Zander NF, Kilimann MW. Francke U, et al. Among authors: kilimann mw. Am J Hum Genet. 1989 Aug;45(2):276-82. Am J Hum Genet. 1989. PMID: 2757032 Free PMC article.

10

Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.

Burwinkel B, Miglierini G, Jenne DE, Gilbert DJ, Copeland NG, Jenkins NA, Ring HZ, Francke U, Kilimann MW. Burwinkel B, et al. Among authors: kilimann mw. Genomics. 1998 May 1;49(3):462-6. doi: 10.1006/geno.1998.5276. Genomics. 1998. PMID: 9615234

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