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4. Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations

Author

Meyer-Schuman, Rebecca, primary, Cale, Allison R, additional, Pierluissi, Jennifer A, additional, Jonatzke, Kira E, additional, Park, Young N, additional, Lenk, Guy M, additional, Oprescu, Stephanie N, additional, Grachtchouk, Marina A, additional, Dlugosz, Andrzej A, additional, Beg, Asim A, additional, Meisler, Miriam H, additional, and Antonellis, Anthony, additional

Published
2024
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5. Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases

Author

Beijer, Danique, primary, Marte, Sheila, additional, Li, Jiaxin C, additional, De Ridder, Willem, additional, Chen, Jessie Z, additional, Tadenev, Abigail L D, additional, Miers, Kathy E, additional, Deconinck, Tine, additional, Macdonell, Richard, additional, Marques, Wilson, additional, De Jonghe, Peter, additional, Pratt, Samia L, additional, Meyer-Schuman, Rebecca, additional, Züchner, Stephan, additional, Antonellis, Anthony, additional, Burgess, Robert W, additional, and Baets, Jonathan, additional

Published
2024
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7. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Author

Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie, Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini, Bainbridge, Matthew, Lawson, Kim, Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela, Goksungur, Meryem, Shy, Michael, Crawford, Thomas, Koenig, Michel, Willer, Jason, Flores, Brittany, Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna, Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard, and Lupski, James

Subjects
Animals, Charcot-Marie-Tooth Disease, Exome, Female, Genetic Load, Genetic Variation, HSP40 Heat-Shock Proteins, Humans, Male, Mutation, Myelin P2 Protein, Pedigree, Penetrance, Peripheral Nervous System Diseases, Phenotype, Serine C-Palmitoyltransferase, Suppression, Genetic, Zebrafish
Abstract

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity.

Published
2015

8. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Author

Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, and Dallman, Julia E

Subjects
COS Cells, Embryo, Nonmammalian, Animals, Animals, Genetically Modified, Zebrafish, Humans, Optic Atrophy, Autosomal Dominant, Charcot-Marie-Tooth Disease, Genetic Predisposition to Disease, Phosphate Transport Proteins, Muscle Proteins, Saccharomyces cerevisiae Proteins, Membrane Proteins, Mitochondrial Proteins, Microscopy, Confocal, Microscopy, Electron, Transmission, Pedigree, Sequence Analysis, DNA, RNA Interference, Protein Binding, Mutation, Female, Male, Mitochondrial Membranes, HEK293 Cells, Exome, Chlorocebus aethiops, Brain Disorders, Genetics, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with recessive mutations in SLC25A46. We demonstrate that SLC25A46, like Ugo1, is a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (Fcj1). Loss of function in cultured cells and in zebrafish unexpectedly leads to increased mitochondrial connectivity, while severely affecting the development and maintenance of neurons in the fish. The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.

Published
2015

9. A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.

Author

Theuriet, Julian, Marte, Sheila, Isapof, Arnaud, de Becdelièvre, Alix, Konyukh, Marina, Laureano‐Figueroa, Stephanie M., Latour, Philippe, Quadrio, Isabelle, Maisonobe, Thierry, Antonellis, Anthony, and Stojkovic, Tanya

Subjects
FUNCTIONAL status, GENETIC variation, ELECTROMYOGRAPHY, BIOLOGICAL assay, CHARCOT-Marie-Tooth disease, SEQUENCE analysis, NERVE conduction studies
Abstract

Background and Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl‐tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot–Marie–Tooth (CMT) disease has been linked to heterozygous pathogenic variants in NARS1 in nine patients. Here, we report two brothers and their mother from a French family with distal hereditary motor neuropathy (dHMN) carrying a previously unreported NARS1 variant. Methods: The NARS1 variant (c.1555G>C; p.(Gly519Arg)) was identified through whole‐genome sequencing (WGS) performed on the family members. Clinical findings, nerve conduction studies (NCS), needle electromyography (EMG), and functional assays in yeast complementation assays are reported here. Results: The family members showed symptoms of dHMN, including distal weakness and osteoarticular deformities. They also exhibited brisk reflexes suggestive of upper motor neuron involvement. All patients were able to walk independently at the last follow‐up. NCS and EMG confirmed pure motor neuropathy. Functional assays in yeast confirmed a loss‐of‐function effect of the variant on NARS1 activity. Interpretation: Our findings expand the clinical spectrum of NARS1‐associated neuropathies, highlighting the association of NARS1 mutations with dHMN. The benign disease course observed in our patients suggests a slowly progressive phenotype. Further reports could contribute to a more comprehensive understanding of the spectrum of NARS1‐associated neuropathies. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Author

Morelli, Kathryn H., Griffin, Laurie B., Pyne, Nettie K., Wallace, Lindsay M., Fowler, Allison M., Oprescu, Stephanie N., Takase, Ryuichi, Wei, Na, Meyer-Schuman, Rebecca, Mellacheruvu, Dattatreya, Kitzman, Jacob O., Kocen, Samuel G., Hines, Timothy J., Spaulding, Emily L., Lupski, James R., Nesvizhskii, Alexey, Mancias, Pedro, Butler, Ian J., Yang, Xiang-Lei, Hou, Ya-Ming, Antonellis, Anthony, Harper, Scott Q., and Burgess, Robert W.

Subjects
Thermo Fisher Scientific Inc., Charcot-Marie-Tooth disease -- Genetic aspects -- Prevention -- Analysis, RNA interference -- Analysis, Transfer RNA -- Analysis, Gene mutation -- Analysis, Ligases -- Analysis, Scientific equipment industry -- Analysis, Messenger RNA, Genes, RNA, Health care industry, The Jackson Laboratory
Abstract

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases--where treatment may require reduction in the expression of a toxic mutant protein resulting from a gain-of-function allele--is unclear. Here we show the efficacy of allele-specific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant mutations in glycyl-tRNA synthetase (GARS). A de novo mutation in GARS was identified in a patient with a severe peripheral neuropathy, and a mouse model precisely recreating the mutation was produced. These mice developed a neuropathy by 3-4 weeks of age, validating the pathogenicity of the mutation. RNAi sequences targeting mutant GARS mRNA, but not wild- type, were optimized and then packaged into AAV9 for in vivo delivery. This almost completely prevented the neuropathy in mice treated at birth. Delaying treatment until after disease onset showed modest benefit, though this effect decreased the longer treatment was delayed. These outcomes were reproduced in a second mouse model of CMT2D using a vector specifically targeting that allele. The effects were dose dependent, and persisted for at least 1 year. Our findings demonstrate the feasibility of AAV9-mediated allele-specific knockdown and provide proof of concept for gene therapy approaches for dominant neuromuscular diseases., Introduction Personalized medicine seeks to provide optimized treatments for individuals based on the molecular characteristics of their specific disease. For example, cancer treatments are customized to the genetics of the [...]

Published
2019
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15. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Author

Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, and Zhang, Victor W.

Published
2019
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17. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Author

Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, and De Jonghe, Peter

Published
2019
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20. Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Author

Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, and Francklyn, Christopher

Published
2018
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21. Cover Image, Volume 39, Issue 3

Author

Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, and Francklyn, Christopher

Published
2018
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26. Cover Image, Volume 38, Issue 10

Author

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., and Antonellis, Anthony

Published
2017
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32. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Published
2015
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33. A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Author

Forrest, Megan E., Meyer, Alayne P., Figueroa, Stephanie M. Laureano, and Antonellis, Anthony

Subjects
MOTOR neuron diseases, AMINOACYL-tRNA synthetases, PROTEIN synthesis, HETEROZYGOSITY, MUSCLE weakness
Abstract

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (AARS1, GARS1, HARS1, WARS1, and YARS1) encoding cytoplasmic, dimeric ARSs have been associated with autosomal dominant neurological phenotypes, including axonal Charcot-Marie-Tooth disease (CMT). Missense variants in the catalytic domain of YARS1 were previously linked to dominant intermediate CMT type C (DICMTC). Here, we report a patient with a missense variant of unknown significance predicted to modify residue 308 in the anticodon binding domain of YARS1 (p.Asp308Tyr). Interestingly, p.Asp308Tyr is associated with proximal-predominant motor neuropathy, which has not been reported in patients with pathogenic YARS1 variants. We demonstrate that this allele causes a loss-of-function effect in yeast complementation assays when modeled in YARS1 and the yeast ortholog TYS1; structural modeling of this variant further supports a loss-of-function effect. Taken together, this study raises the possibility that certain YARS1 variants cause proximal-prominent motor neuropathy and indicates that patients with this phenotype should be screened for genetic lesions in YARS1. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Author

McLaughlin, Heather M., Sakaguchi, Reiko, Cuiping Liu, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Zuchner, Stephan, Szigeti, Kinga, Lupski, James R., Ya-Ming Hou, Green, Eric D., and Antonellis, Anthony

Subjects
Charcot-Marie-Tooth disease -- Genetic aspects, Gene mutations -- Analysis, Lysine -- Research, Peripheral nerve diseases -- Research, Transfer RNA -- Research, Biological sciences
Abstract

A large-scale mutation screen of some genes encoding aminoacyl-tRNA synthetases (ARSs) in patients with Charcot-Marie-Tooth (CMT) disease characterized by peripheral neuropathy is undertaken to explore the role of ARSs in CMT disease. Results reveal that multiple mutations of the lysyl-tRNA synthetase (KARS) gene belonging to the ARS gene family, which severely affect related enzyme activity, are found in a single patient with CMT.

Published
2010

40. Additional file 1 of SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

Author

Fogarty, Elizabeth A., Kitzman, Jacob O., and Antonellis, Anthony

Abstract

Additional file 1: Supplementary Figure 1. Validation of CPT-cAMP-induced differentiation of primary Schwann cells. Protein lysates from independent populations of primary Schwann cells treated with CPT-cAMP (cAMP) or vehicle (Control). MPZ was used a positive marker of differentiation, while cJun serves as a negative marker of differentiation. IARS was used as a protein loading control. Numbered dashes between blots indicate the position of protein size markers in kilodaltons (kDa). Supplementary Figure 2. Generation of ΔSOX10 S16 cell model. (A) Locations of guide RNAs designed against the first coding exon of the rat Sox10 locus. (B) RT-PCR to assay Sox10 transcript expression in unmodified, parental S16 cells and each individual ΔSOX10 S16 clone. Two independent primer sets for Sox10 and primers for Actb as a positive control. Blank reactions (no cDNA) were included for each primer pair. Sizes of DNA ladder are shown to the left in base pairs (bp). (C) SOX10 protein expression in unmodified, parental S16 cells and each individual ΔSOX10 S16 clone. IARS was used as a protein loading control. Numbered dashes indicate positions of protein size markers in kilodaltons (kDa). Supplementary Figure 3. SOX10-dependent transcription start sites show no difference in GC content. (A). GC content (y-axis) averaged in 10 base pair bins for genomic regions surrounding transcription start sites (TSSs) that were downregulated, upregulated, or unchanged in ΔSOX10 S16 cells (Fig. 3a). X-axis: distance from the TSS (bp, base pairs). (B) The fraction of downregulated, upregulated, and unchanged TSSs (Fig. 3a) that fall into quintile bins based on GC content measured across the +/− 1 kb window surrounding the TSS. Supplementary Figure 4. SOX10-dependent transcription start sites are associated with increased SOX10 ChIP-Seq signal independent of GC content. Aggregate SOX10 ChIP-Seq data in the 2-kilobase region surrounding TSSs that were downregulated, upregulated, or unchanged in ΔSOX10 S16 cells as in Fig. 3a, binned by GC content as in Supplementary Figure 3B. X-axis: genomic distance from the TSS (base pairs, bp). Y-axis: average SOX10 ChIP-Seq signal (RPM, reads per million). Asterisk indicates p

Published
2020
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41. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

Author

Riazuddin, Saima, Khan, Shaheen N., Ahmed, Zubair M., Gosh, Manju, Caution, Kyle, Nazli, Sabiha, Kabra, Madhulika, Zafar, Ahmad U., Chen, Kevin, Naz, Sadaf, Antonellis, Anthony, Pavan, William J., Green, Eric D., Wilcox, Edward R., Friedman, Penelope L., Morell, Robert J., Riazuddin, Sheikh, and Friedman, Thomas B.

Subjects
United States. National Institutes of Health, Allelomorphism -- Research, Genetic markers -- Research, Gene mutations -- Research, Biological sciences
Published
2006

45. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (Report)

Author

Antonellis, Anthony, Ellsworth, Rachel E., Sambuughin, Nyamkhishig, Puls, Imke, Abel, Annette, Lee-Lin, Shih-Queen, Jordanova, Albena, Kremensky, Ivo, Christodoulou, Kyproula, Middleton, Lefkos T., Sivakumar, Kumaraswamy, Ionasescu, Victor, Funalot, Benoit, Vance, Jeffery M., Goldfarb, Lev G., Fischbeck, Kenneth H., and Green, Eric D.

Subjects
Spinal muscular atrophy -- Genetic aspects, Charcot-Marie-Tooth disease -- Genetic aspects, Human genetics -- Research, Genetic disorders -- Research, Biological sciences
Published
2003

47. Contributors

Author

Ackerman, Michael J., primary, Anderson, Matthew L., additional, Andreotti, Felicita, additional, Annex, Brian H., additional, Antonellis, Anthony, additional, Artemov, Dmitri, additional, Bain, James R., additional, Barnes, Peter J., additional, Barnholtz-Sloan, J.S., additional, Becker, Richard C., additional, Benjamin, Ivor J., additional, Billings, Paul R., additional, Body, Simon C., additional, Boguski, Mark, additional, Bonassi, Stefano, additional, Bondy, Brigitta, additional, Bos, J. Martijn, additional, Breitbart, Roger E., additional, Brody, Jerome, additional, Brown, Matthew P., additional, Bullinger, Lars, additional, Burgess, Shawn C., additional, Butte, Atul J., additional, Carey, David J., additional, Carlson, George, additional, Celedón, Juan C., additional, Chandrasekharan, Subhashini, additional, Chang, Wing C. (John), additional, Chen, Yan, additional, Chiocca, Antonio, additional, Chow, Theresa Puifun, additional, Chung, Wendy K., additional, Cook-Deegan, Robert, additional, Corella, Dolores, additional, Cottrell, Susan, additional, Cox, Nancy J., additional, Crawford, Nigel P.S., additional, Cuticchia, A. Jamie, additional, Deforce, Dieter, additional, Deng, Mario C., additional, Devi, Gayathri, additional, deVos, Theo, additional, Distler, Juergen, additional, Dohner, Harmut, additional, Dokun, Ayotunde O., additional, Edbrooke, Mark R., additional, Edelman, Lucas B., additional, Elewaut, Dirk, additional, Epstein, Charles J., additional, Fanous, Ayman H., additional, Febbo, Phillip G., additional, Feezor, Robert J., additional, Feng, Yonmei, additional, Földes-Papp, Zeno, additional, Fujinaka, Hidehiko, additional, Galas, David J., additional, Garrison, Louis, P., additional, Gerhard, Glenn S., additional, Ginsburg, Geoffrey S., additional, Gjertsen, Bjorn T., additional, Glass, Michael, additional, Goldstein, David B., additional, Gordon, Erynn S., additional, Gosnell, Tucker, additional, Grass, Peter, additional, Green, Eric D., additional, Grossman, Iris, additional, Gwinn, Marta, additional, Haefliger, Carolina, additional, Haga, Susanne B., additional, Hall, Per, additional, Hare, Joshua M., additional, Hariri, Ahmad, additional, Heath, James R., additional, Hegele, Robert A., additional, Heidecker, Bettina, additional, Hislop, Shona, additional, Hoffman, Eric P., additional, Holton, John, additional, Hood, Leroy, additional, Huang, Andrew T., additional, Huang, Erich S., additional, Hubbard, Carlos A., additional, Hunter, Kent, additional, Hyland, Courtney, additional, Ihm, Chunhwa, additional, Ilkayeva, Olga, additional, Irizarry, Rafael, additional, Jain, Shushant, additional, Johnson, Melissa D., additional, Kantoff, Philip W., additional, Kathiresan, Sekar, additional, Kathuria, Hasmeena, additional, Kawamoto, Kensaku, additional, Keyser, Filip De, additional, Khalid, Asif, additional, Khoury, Muin, additional, Kingsmore, Stephen F., additional, Kittleson, Michelle M., additional, Koshy, Beena T., additional, Krishnan, Ranga, additional, Krouse, Robert S., additional, Kundra, Vikas, additional, Lai-Goldman, Myla, additional, Lakhani, Vipul, additional, Langer, Robert, additional, Lawler, Sean E., additional, Lee, Inyoul, additional, Lee, Charles, additional, Lee, Arthur S., additional, Leong, Stanely, additional, Lesche, Ralf, additional, Levy, Samuel, additional, Liu, Edison T., additional, Lobach, David F., additional, Lorens, James B., additional, Lusis, Aldons J., additional, Lyerly, H. Kim, additional, Madamanchi, Nageswara R., additional, Martinez, J. Alfredo, additional, Masignani, Vega, additional, McGrath, Kevin, additional, McHutchison, John, additional, Middleton, Frank, additional, Mielants, Herman, additional, Muehlbauer, Michael J., additional, Müller-Ladner, Ulf, additional, Nelson, Mark A., additional, Neri, Monica, additional, Netea, Mihai, additional, Newby, L. Kristin, additional, Newgard, Christopher B., additional, Ng, Maggie, additional, Noble, Paul W., additional, Ntziachristos, Vasilis, additional, Nussbaum, Robert L., additional, O'Donoghue, Meghan B., additional, Odunsi, Kunle, additional, Olden, Kenneth, additional, Ommen, Steve R., additional, Ordovas, Jose M., additional, Patarca, Roberto, additional, Patel, Jeetendra, additional, Patel, K., additional, Pato, Carlos N., additional, Pato, Michele T., additional, Pejovic, Tanja, additional, Perin, Noah C., additional, Pham, Michael, additional, Plenge, Robert M., additional, Plum, Achim, additional, Podgoreanu, Mihai V., additional, Pollack, Jonathan R., additional, Pollex, Rebecca L., additional, Price, Nathan D., additional, Quertermous, Thomas, additional, Quintana, Francisco J., additional, Raby, Benjamin A., additional, Rader, Daniel J., additional, Ramaswamy, Sridhar, additional, Rammensee, Hans-Georg, additional, Ramsey, Scott D., additional, Rappuoli, Rino, additional, Rifai, Nader, additional, Rimsza, Lisa, additional, Rogers, Yu-Hui, additional, Roses, Allen D., additional, Ross, Jeffrey S., additional, Roubenoff, Ronenn, additional, Runge, Marschall S., additional, Scheuner, Maren T., additional, Schuster, Matthias, additional, Schwartz, David A., additional, Schwinn, Debra A., additional, Seng, Chia Kee, additional, Shackel, Nicholas A., additional, Shannon, M. Frances, additional, Sherry, A. Dean, additional, Shi, Jiaqi, additional, Shianna, Kevin, additional, Shnayder, Yelizaveta, additional, Singleton, Andrew B., additional, Slavin, T.P., additional, Smith, Desmond J., additional, Snoeckx, Rikkert L., additional, Snyderman, Ralph, additional, Spira, Avrum, additional, Spraggs, Colin F., additional, Stevens, Robert D., additional, Stewart, Nicolas A., additional, Stewart, Alison, additional, Stewart, F., additional, Strausberg, Robert L., additional, Szyf, Moshe, additional, Tan, Weihong, additional, Tepper, Robert I., additional, Tettelin, Hervé, additional, Thomas, Giovana R., additional, Thompson, John D., additional, Thongboonkerd, Visith, additional, Topol, Eric J., additional, Towbin, Jeffrey A., additional, Bodegraven, Ad A. van, additional, Van Den Bogaert, Kris, additional, Van den Bosch, Filip, additional, Vatta, Matte, additional, Veenstra, Timothy D., additional, Veenstra, David L., additional, Vendrov, Aleksandr E., additional, Verfaillie, Catherine M., additional, Walley, Nicole M., additional, Wang, Ling, additional, Weale, Mike, additional, Weinblatt, Michael E., additional, Weiner, Howard L., additional, Weiss, Scott T., additional, Weissleder, Ralph, additional, Wells, Samuel A., additional, Wenner, Brett R., additional, Wiechers, Ilse R., additional, Wiesner, Georgia L., additional, Wiggs, Janey L., additional, Wijmenga, Cisca, additional, Willard, Huntington F., additional, Wilson, James M., additional, Wivel, Nelson A., additional, Wohlgemuth, Jay, additional, Woodcock, Janet, additional, Woods, Christopher W., additional, Woon, Paula W., additional, Yagil, Chana, additional, Yagil, Yoram, additional, Yamamoto, Tadashi, additional, Yao, Gang, additional, Yee, Andrew J., additional, Yoo, Hyuntae, additional, You, Y. Nancy, additional, Yu, Li-Rong, additional, Zagury, Jean-François, additional, Zimmern, Ron, additional, and Züchner, Stephan, additional

Published
2009
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48. Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Author

Bedoyan, Jirair Krikor, Schaibley, Valerie M, Peng, Weiping, Bai, Yongsheng, Mondal, Kajari, Shetty, Amol C, Durham, Mark, Micucci, Joseph A, Dhiraaj, Arti, Skidmore, Jennifer M, Kaplan, Julie B, Skinner, Cindy, Schwartz, Charles E, Antonellis, Anthony, Zwick, Michael E, Cavalcoli, James D, Li, Jun Z, and Martin, Donna M

Published
2012
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