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Material Type: Artigo
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Rehabilitation of spinal cord injury in the national rehabilitation center for the disabled of Japan : profile of a spinal serviceSUYAMA, T ; NIHEI, R ; KIMURA, T ; YANO, H ; TOBIMATSU, Y ; HATSUYAMA, Y ; NAKAMURA, R ; MIZUKAMI, MSpinal cord, 1997-11, Vol.35 (11), p.720-724 [Periódico revisado por pares]London: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Understanding early communication signals in autism: a study of the perception of infants' cryEsposito, G. ; Venuti, P.Journal of intellectual disability research, 2010-03, Vol.54 (3), p.216-223 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortDavidson, G. L. ; Murphy, S. M. ; Polke, J. M. ; Laura, M. ; Salih, M. A. M. ; Muntoni, F. ; Blake, J. ; Brandner, S. ; Davies, N. ; Horvath, R. ; Price, S. ; Donaghy, M. ; Roberts, M. ; Foulds, N. ; Ramdharry, G. ; Soler, D. ; Lunn, M. P. ; Manji, H. ; Davis, M. B. ; Houlden, H. ; Reilly, M. M.Journal of neurology, 2012-08, Vol.259 (8), p.1673-1685 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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4 |
Material Type: Artigo
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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)Mochel, F. ; Sedel, F. ; Vanderver, A. ; Engelke, U. F. H. ; Barritault, J. ; Yang, B. Z. ; Kulkarni, B. ; Adams, D. R. ; Clot, F. ; Ding, J. H. ; Kaneski, C. R. ; Verheijen, F. W. ; Smits, B. W. ; Seguin, F. ; Brice, A. ; Vanier, M. T. ; Huizing, M. ; Schiffmann, R. ; Durr, A. ; Wevers, R. A.Brain (London, England : 1878), 2009-03, Vol.132 (3), p.801-809 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNAKärppä, Mikko ; Herva, Riitta ; Moslemi, Ali-Reza ; Oldfors, Anders ; Kakko, Sakari ; Majamaa, KariBrain (London, England : 1878), 2005-08, Vol.128 (8), p.1861-1869 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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MELAS and MERRF : The relationship between maternal mutation load and the frequency of clinically affected offspringCHINNERY, P. F ; HOWELL, N ; LIGHTOWLERS, R. N ; TURNBULL, D. MBrain (London, England : 1878), 1998-10, Vol.121 (10), p.1889-1894 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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7 |
Material Type: Artigo
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Apoptosis is suspended in muscle of mitochondrial encephalomyopathiesIKEZOE, Koji ; NAKAGAWA, Masahiro ; YAN, Chuanzhu ; KIRA, Jun-Ichi ; GOTO, Yu-Ichi ; NONAKA, IkuyaActa neuropathologica, 2002-06, Vol.103 (6), p.531-540 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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8 |
Material Type: Artigo
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Biochemical and genetic studies in a family with mitochondrial myopathyHeiman-Patterson, Terry D. ; Argov, Zohar ; Chavin, Jeffrey M. ; Kalman, Bernadette ; Alder, Hansjuerg ; DiMauro, Salvatore ; Bank, William ; Tahmoush, Albert J.Muscle & nerve, 1997-10, Vol.20 (10), p.1219-1224 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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9 |
Material Type: Artigo
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Hereditary dentatorubral-pallidoluysian atrophy : ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neuronsHAYASHI, Y ; KAKITA, A ; YAMADA, M ; EGAWA, S ; OYANAGI, S ; NAITO, H ; TSUJI, S ; TAKAHASHI, HActa neuropathologica, 1998-05, Vol.95 (5), p.479-482 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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10 |
Material Type: Artigo
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Phenotype variation correlates with CAG repeat length in SCA2 - A study of 28 Japanese patientsSasaki, Hidenao ; Wakisaka, Akemi ; Sanpei, Kazuhiro ; Takano, Hiroki ; Igarashi, Shuichi ; Ikeuchi, Takeshi ; Iwabuchi, Kiyoshi ; Fukazawa, Toshiyuki ; Hamada, Takeshi ; Yuasa, Tatsuhiko ; Tsuji, Shoji ; Tashiro, KunioJournal of the neurological sciences, 1998-08, Vol.159 (2), p.202-208 [Periódico revisado por pares]Shannon: Elsevier B.VTexto completo disponível |