Canlyniadau Chwilio - Akman, Hasan O

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation gan Dorado, Beatriz, Area, Estela, Akman, Hasan O., Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders gan Kakhlon, Or, Escriba, Pablo V., Akman, Hasan O., Weil, Miguel

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency gan Virmani, Tuhin, Rotstein, Michael, Spiegel, Ronen, Akman, Hasan O., DiMauro, Salvatore, Greene, Paul E.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature gan Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, De Vivo, Darryl C., DiMauro, Salvatore

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy gan Shanske, Sara, Naini, Ali, Chmait, Ramen H., Akman, Hasan O., Mansukhani, Mahesh, Lu, Jiesheng, Hirano, Michio, DiMauro, Salvatore

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis gan McCue, Molly E, Valberg, Stephanie J, Miller, Michael B, Wade, Claire, DiMauro, Salvatore, Akman, Hasan O, Mickelson, James R

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency gan Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Branching Enzyme Deficiency: Expanding the Clinical Spectrum gan Paradas, Carmen, Akman, Hasan O., Ionete, Carolina, Lau, Heather, Riskind, Peter N., Jones, David E., Smith, Thomas W., Hirano, Michio, DiMauro, Salvatore

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene gan Ríos, Purificacion Gutiérrez, Kalra, Arun A., Wilson, Jon D., Tanji, Kurenai, Akman, Hasan O., Gómez, Estela Area, Schon, Eric A., DiMauro, Salvatore

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance gan Akman, Hasan O., Dorado, Beatriz, López, Luis C., García-Cazorla, Ángeles, Vilà, Maya R., Tanabe, Lauren M., Dauer, William T., Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency gan Lopez-Gomez, Carlos, Hewan, Henly, Sierra, Carlos, Akman, Hasan O., Sanchez-Quintero, Maria J., Juanola-Falgarona, Marti, Tadesse, Saba, Tanji, Kurenai, Konofagou, Elisa E., Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice gan López, Luis C., Akman, Hasan O., García-Cazorla, Ángeles, Dorado, Beatriz, Martí, Ramón, Nishino, Ichizo, Tadesse, Saba, Pizzorno, Giuseppe, Shungu, Dikoma, Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Fhl1 W122S causes loss of protein function and late-onset mild myopathy gan Emmanuele, Valentina, Kubota, Akatsuki, Garcia-Diaz, Beatriz, Garone, Caterina, Akman, Hasan O., Sánchez-Gutiérrez, Daniel, Escudero, Luis M., Kariya, Shingo, Homma, Shunichi, Tanji, Kurenai, Quinzii, Catarina M., Hirano, Michio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene gan Akman, Hasan O., Davidzon, Guido, Tanji, Kurenai, MacDermott, Emma J., Larsen, Louann, Davidson, Mercy M., Haller, Ronald G., Szczepaniak, Lidia S., Lehman, Thomas J.A., Hirano, Michio, DiMauro, Salvatore

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy gan Taniguchi-Ikeda, Mariko, Kobayashi, Kazuhiro, Kanagawa, Motoi, Yu, Chih-chieh, Mori, Kouhei, Oda, Tetsuya, Kuga, Atsushi, Kurahashi, Hiroki, Akman, Hasan O., DiMauro, Salvatore, Kaji, Ryuji, Yokota, Toshifumi, Takeda, Shin’ichi, Toda, Tatsushi

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation gan Garcia-Diaz, Beatriz, Barros, Mario H., Sanna-Cherchi, Simone, Emmanuele, Valentina, Akman, Hasan O., Ferreiro-Barros, Claudia C., Horvath, Rita, Tadesse, Saba, El Gharaby, Nader, DiMauro, Salvatore, De Vivo, Darryl C., Shokr, Aly, Hirano, Michio, Quinzii, Catarina M.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis gan Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings gan Mochel, Fanny, Schiffmann, Raphael, Steenweg, Marjan E., Akman, Hasan O., Wallace, Mary, Sedel, Frédéric, Laforêt, Pascal, Levy, Richard, Powers, J. Michael, Demeret, Sophie, Maisonobe, Thierry, Froissart, Roseline, Da Nobrega, Bruno Barcelos, Fogel, Brent L., Natowicz, Marvin R., Lubetzki, Catherine, Durr, Alexandra, Brice, Alexis, Rosenmann, Hanna, Barash, Varda, Kakhlon, Or, Gomori, J. Moshe, van der Knaap, Marjo S., Lossos, Alexander

Cael y testun llawn Cael y testun llawn Cael y testun llawn