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Page 1
Distal lipid storage myopathy due to PNPLA2 mutation.
Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: sugie h. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972
Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I. Ohkuma A, et al. Among authors: sugie h. Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167. Muscle Nerve. 2009. PMID: 19208393 Free PMC article.
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M. Furusawa Y, et al. Among authors: sugie h. J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7. J Inherit Metab Dis. 2012. PMID: 21984055
Frequent mutations in Japanese patients with acid maltase deficiency.
Tsujino S, Huie M, Kanazawa N, Sugie H, Goto Y, Kawai M, Nonaka I, Hirschhorn R, Sakuragawa N. Tsujino S, et al. Among authors: sugie h. Neuromuscul Disord. 2000 Dec;10(8):599-603. doi: 10.1016/s0960-8966(00)00142-5. Neuromuscul Disord. 2000. PMID: 11053688
A case of MERRF associated with chronic pancreatitis.
Toyono M, Nakano K, Kiuchi M, Imai K, Suzuki H, Shishikura K, Osawa M, Shiratori K, Goto Y, Nonaka I, Sugie H. Toyono M, et al. Among authors: sugie h. Neuromuscul Disord. 2001 Apr;11(3):300-4. doi: 10.1016/s0960-8966(00)00176-0. Neuromuscul Disord. 2001. PMID: 11297946
Muscle biochemical and pathological diagnosis in Pompe disease.
Saito Y, Nakamura K, Fukuda T, Sugie H, Hayashi S, Noguchi S, Nishino I. Saito Y, et al. Among authors: sugie h. J Neurol Neurosurg Psychiatry. 2022 Apr 25:jnnp-2022-329085. doi: 10.1136/jnnp-2022-329085. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35470251
197 results