Hays AP - Search Results

1

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.

Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mendell JR, Hays AP, Bertorini TE, Pestronk A, Bonilla E, DiMauro S. Santorelli FM, et al. Among authors: hays ap. Ann Neurol. 1996 Jun;39(6):789-95. doi: 10.1002/ana.410390615. Ann Neurol. 1996. PMID: 8651651

2

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al. Hirano M, et al. Among authors: hays ap. Neurology. 1994 Apr;44(4):721-7. doi: 10.1212/wnl.44.4.721. Neurology. 1994. PMID: 8164833

3

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Salviati L, et al. Among authors: hays ap. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

4

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.

5

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Santorelli FM, et al. Among authors: hays ap. Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8. doi: 10.1006/bbrc.1997.7167. Biochem Biophys Res Commun. 1997. PMID: 9299505 Free article.

6

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

7

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Tay SK, et al. Among authors: hays ap. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Neuromuscul Disord. 2004. PMID: 15019703

8

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.

9

Clinical syndromes associated with ragged red fibers.

Rowland LP, Blake DM, Hirano M, Di Mauro S, Schon EA, Hays AP, Devivo DC. Rowland LP, et al. Among authors: hays ap. Rev Neurol (Paris). 1991;147(6-7):467-73. Rev Neurol (Paris). 1991. PMID: 1962052

10

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.

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