A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

Por Malicdan, May Christine V., Noguchi, Satoru, Nishino, Ichizo
Publicado em 2010

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Por Noguchi, Satoru, Ogawa, Megumu, Kawahara, Genri, Malicdan, May Christine, Nishino, Ichizo
Publicado em 2014

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy

Por Noguchi, Satoru, Ogawa, Megumu, Malicdan, May Christine, Nonaka, Ikuya, Nishino, Ichizo
Publicado no EBioMedicine (2016)

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree

Por Mehrpour, Masoud, Gohari, Faeze, Dizaji, Majid Zaki, Ahani, Ali, Malicdan, May Christine V., Behnam, Babak
Publicado no J Mol Genet Med (2016)

Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy

Por Malicdan, May Christine V., Noguchi, Satoru, Tokutomi, Tomoharu, Goto, Yu-ichi, Nonaka, Ikuya, Hayashi, Yukiko K., Nishino, Ichizo
Publicado em 2012

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

Por Momma, Kazunari, Noguchi, Satoru, Malicdan, May Christine V., Hayashi, Yukiko K., Minami, Narihiro, Kamakura, Keiko, Nonaka, Ikuya, Nishino, Ichizo
Publicado em 2012

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome-2?

Por SVINGEN, LEAH, GOHEEN, MITCHELL, GODFREY, RENA, WAHL, COLLEEN, BAKER, EVA H, GAHL, WILLIAM A, MALICDAN, MAY CHRISTINE V, TORO, CAMILO
Publicado no Dev Med Child Neurol (2017)

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Por Yonekawa, Takahiro, Malicdan, May Christine V., Cho, Anna, Hayashi, Yukiko K., Nonaka, Ikuya, Mine, Toshiki, Yamamoto, Takeshi, Nishino, Ichizo, Noguchi, Satoru
Publicado em 2014

Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

Por Leoyklang, Petcharat, Malicdan, May Christine, Yardeni, Tal, Celeste, Frank, Ciccone, Carla, Li, Xueli, Jiang, Rong, Gahl, William A., Carrillo-Carrasco, Nuria, He, Miao, Huizing, Marjan
Publicado em 2014

Mutation Update for GNE Gene Variants Associated with GNE Myopathy

Por Celeste, Frank V., Vilboux, Thierry, Ciccone, Carla, de Dios, John Karl, Malicdan, May Christine V., Leoyklang, Petcharat, McKew, John C., Gahl, William A., Carrillo-Carrasco, Nuria, Huizing, Marjan
Publicado em 2014

Clinical and Molecular Phenotyping of a Child with Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS

Por Bryan, Melanie M., Tolman, Nathanial, Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V., Gochuico, Bernadette R.
Publicado no Mol Genet Metab (2017)

1,25-(OH)(2)D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Por Nesterova, Galina, Malicdan, May Christine, Yasuda, Kaori, Sakaki, Toshiyuki, Vilboux, Thierry, Ciccone, Carla, Horst, Ronald, Huang, Yan, Golas, Gretchen, Introne, Wendy, Huizing, Marjan, Adams, David, Boerkoel, Cornelius F., Collins, Michael T., Gahl, William A.
Publicado em 2013

Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Por Oprescu, Stephanie N., Chepa-Lotrea, Xenia, Takase, Ryuichi, Golas, Gretchen, Markello, Thomas C., Adams, David R., Toro, Camilo, Gropman, Andrea L., Hou, Ya-Ming, Malicdan, May Christine V., Gahl, William A., Tifft, Cynthia J., Antonellis, Anthony
Publicado no Hum Mutat (2017)

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

Por Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J., O’Brien, Kevin J., Nicoli, Elena-Raluca, Brooks, Brian P., Huryn, Laryssa, Titus, Steven A., Adams, David R., Chen, Dong, Gahl, William A., Gochuico, Bernadette R., Malicdan, May Christine V.
Publicado no PLoS One (2017)

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Por Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral
Publicado no Hum Genet (2017)

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado no PLoS Genet (2017)

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado no PLoS Genet (2017)

Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism

Por O’Brien, Kevin J., Lozier, Jay, Cullinane, Andrew R., Osorio, Brigitte, Nghiem, Khanh, Speransky, Vladislav, Zein, Wadih M., Mullikin, James C., Neff, Anne T., Simon, Karen L., Malicdan, May Christine V., Gahl, William A., Young, Lisa R., Gochuico, Bernadette R.
Publicado no Mol Genet Metab (2016)

Defective ciliogenesis in INPP5E-related Joubert syndrome

Por Hardee, Isabel, Soldatos, Ariane, Davids, Mariska, Vilboux, Thierry, Toro, Camilo, David, Karen L., Ferreira, Carlos R., Nehrebecky, Michele, Snow, Joseph, Thurm, Audrey, Heller, Theo, Macnamara, Ellen F., Gunay-Aygun, Meral, Zein, Wadih M., Gahl, William, Malicdan, May Christine V.
Publicado no Am J Med Genet A (2017)

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Por Li, Chong, Brazill, Jennifer M., Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V., Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E., Gahl, William A., Boerkoel, Cornelius F., Zhai, R. Grace
Publicado no Nat Commun (2017)