Characterization of Endopeptidase Activity of Tripeptidyl Peptidase-I/CLN2 Protein Which Is Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis

By Ezaki J.   Takeda-Ezaki M.   Oda K.   Kominami E.  

Biochemical and Biophysical Research Communications, Vol. 268, Iss. 3, 2000-02 ,pp. : 904-908

Elsevier

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In the Rat Brain Acetyl-l-carnitine Treatment Modulates the Expression of Genes Involved in Neuronal Ceroid Lipofuscinosis

By Traina Giovanna  

Molecular Neurobiology, Vol. 38, Iss. 2, 2008-10 ,pp. : 146-152

Humana Press, Inc

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Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

By Santorelli F.M.   Tanji K.   Kulikova R.   Shanske S.   Vilarinho L.   Hays A.P.   DiMauro S.  

Biochemical and Biophysical Research Communications, Vol. 238, Iss. 2, 1997-09 ,pp. : 326-328

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A Novel Mutation in the Mitochondrial tRNA Thr Gene Associated with a Mitochondrial Encephalomyopathy

By Nishino I.   Seki A.   Maegaki Y.   Takeshita K.   Horai S.   Nonaka I.   Goto Y.I.  

Biochemical and Biophysical Research Communications, Vol. 225, Iss. 1, 1996-08 ,pp. : 180-185

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Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

By Burwinkel B.   Kreuder J.   Schweitzer S.   Vorgerd M.   Gempel K.   Gerbitz K-D.   Kilimann M.W.  

Biochemical and Biophysical Research Communications, Vol. 261, Iss. 2, 1999-08 ,pp. : 484-487

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