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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: rowland lp. 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.
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: rowland lp. Ann Neurol. 1996 Apr;39(4):507-20. doi: 10.1002/ana.410390413. Ann Neurol. 1996. PMID: 8619529 Review.
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: rowland lp. 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.
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. Among authors: rowland lp. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.
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: rowland lp. Arch Neurol. 2008 Mar;65(3):403-6. doi: 10.1001/archneurol.2007.65. Arch Neurol. 2008. PMID: 18332255 Review.
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: rowland lp. Arch Neurol. 2006 Jan;63(1):132-4. doi: 10.1001/archneur.63.1.132. Arch Neurol. 2006. PMID: 16401746
312 results