Hays AP - Search Results

1

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. Quinzii CM, et al. Among authors: hays ap. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013. Am J Hum Genet. 2008. PMID: 18179901 Free PMC article.

2

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.

Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, Bernstein M, Hirano M, Gilliam TC, Murphy PL, Sola MD, Bonilla E, Schotland DL, Hays AP, Rowland LP. Wilhelmsen KC, et al. Among authors: hays ap. Ann Neurol. 1996 Apr;39(4):507-20. doi: 10.1002/ana.410390413. Ann Neurol. 1996. PMID: 8619529 Review.

3

Senataxin mutations and amyotrophic lateral sclerosis.

Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, Rowland LP. Hirano M, et al. Among authors: hays ap. Amyotroph Lateral Scler. 2011 May;12(3):223-7. doi: 10.3109/17482968.2010.545952. Epub 2010 Dec 29. Amyotroph Lateral Scler. 2011. PMID: 21190393 Free PMC article.

4

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Ash DB, Papadimitriou D, Hays AP, Dimauro S, Hirano M. Ash DB, et al. Among authors: hays ap. Arch Neurol. 2012 Sep;69(9):1190-2. doi: 10.1001/archneurol.2011.2600. Arch Neurol. 2012. PMID: 22964912 Free PMC article.

5

Myopathy with tubulin-reactive crystalline inclusions.

Vu TH, Hays AP, Tanji K, Younger D, Gundersen GG, Eastwood A, Braun CW, DiMauro S, Bonilla E. Vu TH, et al. Among authors: hays ap. Neurology. 2001 Jul 10;57(1):149-52. doi: 10.1212/wnl.57.1.149. Neurology. 2001. PMID: 11445649

6

Amyotrophic lateral sclerosis with ragged-red fibers.

Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP. Hirano M, et al. Among authors: hays ap. Arch Neurol. 2008 Mar;65(3):403-6. doi: 10.1001/archneurol.2007.65. Arch Neurol. 2008. PMID: 18332255 Review.

7

Adult-onset nemaline myopathy and monoclonal gammopathy.

Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G. Keller CE, et al. Among authors: hays ap. Arch Neurol. 2006 Jan;63(1):132-4. doi: 10.1001/archneur.63.1.132. Arch Neurol. 2006. PMID: 16401746

8

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP. Bonilla E, et al. Among authors: hays ap. Cell. 1988 Aug 12;54(4):447-52. doi: 10.1016/0092-8674(88)90065-7. Cell. 1988. PMID: 3042151

9

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.

Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. Shin JY, et al. Among authors: hays ap. Dev Cell. 2013 Sep 30;26(6):591-603. doi: 10.1016/j.devcel.2013.08.012. Epub 2013 Sep 19. Dev Cell. 2013. PMID: 24055652 Free PMC article.

10

Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of SOD1 mutation.

Hays AP, Naini A, He CZ, Mitsumoto H, Rowland LP. Hays AP, et al. J Neurol Sci. 2006 Mar 15;242(1-2):67-9. doi: 10.1016/j.jns.2005.11.016. Epub 2006 Jan 19. J Neurol Sci. 2006. PMID: 16423367

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