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1

10.1038/15500

Krolewski, Andrzej S., Malecki, Maciej T., Jhala, Ulupi S., Antonellis, Anthony, Fields, Liz, Doria, Alessandro, Orban, Tihamer, Saad, Mohammed, Warram, James H., Montminy, Marc

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 247 KB

english, 1999

2

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases*

Antonellis, Anthony, Green, Eric D.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2008

Language:

english

File:

PDF, 601 KB

english, 2008

3

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

Chaudhry, Rabia, Kidambi, Aditi, Brewer, Megan Hwa, Antonellis, Anthony, Mathews, Katherine, Nicholson, Garth, Kennerson, Marina

Journal:

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

4

Cell-surface signatures of immune dysfunction risk-stratify critically ill patients: INFECT study

Conway Morris, Andrew, Datta, Deepankar, Shankar-Hari, Manu, Stephen, Jacqueline, Weir, Christopher J., Rennie, Jillian, Antonelli, Jean, Bateman, Anthony, Warner, Noel, Judge, Kevin, Keenan, Jim, Wan

Journal:

Intensive Care Medicine

Year:

2018

Language:

english

File:

PDF, 984 KB

english, 2018

5

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

Amos Etzioni, Laura Sturla, Anthony Antonellis, Eric D. Green, Ruth Gershoni-Baruch, Patricia M. Berninsone, Carlos B. Hirschberg, Michela Tonetti

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

6

Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer

Zachary E. Stine, Jimmy L. Huynh, Stacie K. Loftus, David U. Gorkin, Amirali H. Salmasi, Thomas Novak, Todd Purves, Ronald A. Miller, Anthony Antonellis, John P. Gearhart, William J. Pavan, Andrew S.

Journal:

Year:

2009

Language:

english

File:

PDF, 192 KB

english, 2009

7

Cochlear nerve diameter in normal hearing ears using high-resolution magnetic resonance imaging

Eric M. Jaryszak, Nimish A. Patel, Morgan Camp, Anthony A. Mancuso, Patrick J. Antonelli

Journal:

The Laryngoscope

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

8

SOX10directly modulatesERBB3transcription via an intronic neural crest enhancer

Megana K Prasad, Xylena Reed, David U Gorkin, Julia C Cronin, Anthony R McAdow, Kristopher Chain, Chani J Hodonsky, Erin A Jones, John Svaren, Anthony Antonellis, Stephen L Johnson, Stacie K Loftus, W

Journal:

BMC Developmental Biology

Year:

2011

Language:

english

File:

PDF, 3.68 MB

english, 2011

9

An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10

James R Dutton, Anthony Antonellis, Thomas J Carney, Frederico SLM Rodrigues, William J Pavan, Andrew Ward, Robert N Kelsh

Journal:

BMC Developmental Biology

Year:

2008

Language:

english

File:

PDF, 2.05 MB

english, 2008

10

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

Megan Brewer, Febriani Changi, Anthony Antonellis, Kurt Fischbeck, Patsie Polly, Garth Nicholson, Marina Kennerson

Journal:

Year:

2008

Language:

english

File:

PDF, 208 KB

english, 2008

11

The Contribution of the Left Atrioventricular Plane Displacement During Low Dose Dobutamine Stress Echocardiography in Predicting Recovery of Left Ventricular Dyssynergies

ATHANASIOS KRANIDIS, TANIA BOUKI, KONSTANTINOS KOSTOPOULOS, KOSTAS KAPPOS, ANTHONY SIDERIS, JOHN ANTONELLIS, FOTIS KARDARAS, NIKOS MARGARIS, CHRISTOS LOLAS, LAMBROS ANTHOPOULOS

Journal:

Echocardiography

Year:

1996

Language:

english

File:

PDF, 1.31 MB

english, 1996

12

Direct Interaction of Sox10 with the Promoter of Murine Dopachrome Tautomerase (Dct) and Synergistic Activation of Dct Expression with Mitf

Zhongxian Jiao, Ramin Mollaaghababa, William J. Pavan, Anthony Antonellis, Eric D. Green, Thomas J. Hornyak

Journal:

Pigment Cell & Melanoma Research

Year:

2004

Language:

english

File:

PDF, 495 KB

english, 2004

13

Diagnostic Yield of High-Resolution Computed Tomography for Pediatric Sensorineural Hearing Loss

Patrick J. Antonelli, Adrian E. Varela, Anthony A. Mancuso

Journal:

The Laryngoscope

Year:

1999

Language:

english

File:

PDF, 544 KB

english, 1999

14

Prefrontal dopaminergic receptor abnormalities and executive functions in Parkinson's disease

Ji Hyun Ko, Francesca Antonelli, Oury Monchi, Nicola Ray, Pablo Rusjan, Sylvain Houle, Anthony E. Lang, Leigh Christopher, Antonio P. Strafella

Journal:

Human Brain Mapping

Year:

2012

Language:

english

File:

PDF, 1.50 MB

english, 2012

15

A Method for Developing High-Density SNP Maps and Its Application at the Type 1 Angiotensin II Receptor (AGTR1) Locus

Anthony Antonellis, John J Rogus, Luis H Canani, Yuchiro Makita, Marcus G Pezzolesi, MoonSuk Nam, Daniel Ng, Dariusz Moczulski, James H Warram, Andrzej S Krolewski

Journal:

Year:

2002

Language:

english

File:

PDF, 278 KB

english, 2002

16

SAP Regulates TH2 Differentiation and PKC-θ-Mediated Activation of NF-κB1

Jennifer L. Cannons, Li J. Yu, Brenna Hill, Lilia A. Mijares, Derek Dombroski, Kim E. Nichols, Anthony Antonellis, Gary A. Koretzky, Kevin Gardner, Pamela L. Schwartzberg

Journal:

Year:

2004

Language:

english

File:

PDF, 984 KB

english, 2004

17

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess

Journal:

Molecular and Cellular Neuroscience

Year:

2011

Language:

english

File:

PDF, 2.68 MB

english, 2011

18

SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter

Chani J. Hodonsky, Erica L. Kleinbrink, Kira N. Charney, Megana Prasad, Seneca L. Bessling, Erin A. Jones, Rajini Srinivasan, John Svaren, Andrew S. McCallion, Anthony Antonellis

Journal:

Molecular and Cellular Neuroscience

Year:

2012

Language:

english

File:

PDF, 1.40 MB

english, 2012

19

Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer

Matthew E. Portnoy, Kelly J. McDermott, Anthony Antonellis, Elliott H. Margulies, Arjun B. Prasad, David M. Kingsley, Eric D. Green, Douglas P. Mortlock

Journal:

Year:

2005

Language:

english

File:

PDF, 588 KB

english, 2005

20

Computed tomography and the diagnosis of coalescent mastoiditis

John A. Garside, Patrick J. Antonelli, Paul Kubilis, Anthony Mancuso, Steven T. Strickler

Journal:

Otolaryngology - Head and Neck Surgery

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

21

Computed tomography and the diagnosis of coalescent mastoiditis

PATRICK J. ANTONELLI, JOHN A. GARSIDE, ANTHONY A. MANCUSO, STEVEN T. STRICKLER, PAUL S. KUBILIS

Journal:

Otolaryngology - Head and Neck Surgery

Year:

1999

Language:

english

File:

PDF, 85 KB

english, 1999

22

Pendred's syndrome uncommon in patients with large vestibular aqueducts without goiter

Patrick J Antonelli, Anthony A Mancuso, Walter Drane

Journal:

Otolaryngology - Head and Neck Surgery

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

23

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 687 KB

english, 2003

24

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Saima Riazuddin, Shaheen N. Khan, Zubair M. Ahmed, Manju Ghosh, Kyle Caution, Sabiha Nazli, Madhulika Kabra, Ahmad U. Zafar, Kevin Chen, Sadaf Naz, Anthony Antonellis, William J. Pavan, Eric D. Green,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 836 KB

english, 2006

25

Gpnmb is a melanoblast-expressed, MITF-dependent gene

Stacie K. Loftus, Anthony Antonellis, Ivana Matera, Gabriel Renaud, Laura L. Baxter, Duncan Reid, Tyra G. Wolfsberg, Yidong Chen, ChenWei Wang, NISC Comparative Sequencing Program, Megana K. Prasad, S

Journal:

Pigment Cell & Melanoma Research

Year:

2009

Language:

english

File:

PDF, 706 KB

english, 2009

26

New rare-earth metal germanides with bismuth substitution. Synthesis, structural variations, and magnetism of the RE[BixGe1−x]2 (RE=Y, Pr, Nd, Sm, Gd–Tm, Lu) compounds

Jiliang Zhang, Benjamin Hmiel, Anthony Antonelli, Paul H. Tobash, Svilen Bobev, Shanta Saha, Kevin Kirshenbaum, Richard L. Greene, Johnpierre Paglione

Journal:

Journal of Solid State Chemistry

Year:

2012

Language:

english

File:

PDF, 1.50 MB

english, 2012

27

Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs

Henras, Anthony, Henry, Yves, Bousquet-Antonelli, Cécile, Noaillac-Depeyre, Jacqueline, Gélugne, Jean-Paul, Caizergues-Ferrer, Michèle

Journal:

The EMBO Journal

Year:

1998

Language:

english

File:

PDF, 551 KB

english, 1998

28

Impact of engineered surface microtopography on biofilm formation ofStaphylococcus aureus

Kenneth K. Chung, James F. Schumacher, Edith M. Sampson, Robert A. Burne, Patrick J. Antonelli, Anthony B. Brennan

Journal:

Year:

2007

Language:

english

File:

PDF, 535 KB

english, 2007

29

Nanospheres, Nanocubes, and Nanorods of Nickel Oxalate: Control of Shape and Size by Surfactant and Solvent

Vaidya, Sonalika, Rastogi, Pankaj, Agarwal, Suman, Gupta, Santosh K., Ahmad, Tokeer, Antonelli, Anthony M., Ramanujachary, K. V., Lofland, S. E., Ganguli, Ashok K.

Journal:

The Journal of Physical Chemistry C

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

30

Extrastriatal dopaminergic abnormalities of DA homeostasis in Parkinson's patients with medication-induced pathological gambling: A [11C] FLB-457 and PET study

Ray, Nicola J., Miyasaki, Janis M., Zurowski, Mateusz, Ko, Ji Hyun, Cho, Sang Soo, Pellecchia, Giovanna, Antonelli, Francesca, Houle, Sylvain, Lang, Anthony E., Strafella, Antonio P.

Journal:

Neurobiology of Disease

Year:

2012

Language:

english

File:

PDF, 710 KB

english, 2012

31

Dopamine-agonists and impulsivity in Parkinson's disease: Impulsive choices vs. impulsive actions

Antonelli, Francesca, Ko, Ji Hyun, Miyasaki, Janis, Lang, Anthony E., Houle, Sylvain, Valzania, Franco, Ray, Nicola J., Strafella, Antonio P.

Journal:

Human Brain Mapping

Year:

2014

Language:

english

File:

PDF, 288 KB

english, 2014

32

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

Wallen, Rachel C, Antonellis, Anthony

Journal:

Current Opinion in Genetics & Development

Year:

2013

Language:

english

File:

PDF, 545 KB

english, 2013

33

Pilot Study on the Effect of Linaclotide in Patients With Chronic Constipation

Johnston, Jeffrey M, Kurtz, Caroline B, Drossman, Douglas A, Lembo, Anthony J, Jeglinski, Brenda I, MacDougall, James E, Antonelli, Stephen M, Currie, Mark G

Journal:

American Journal of Gastroenterology

Year:

2009

Language:

english

File:

PDF, 167 KB

english, 2009

34

Inhibition of anthrax lethal factor by curcumin and chemically modified curcumin derivatives

Antonelli, Anthony C., Zhang, Yu, Golub, Lorne M., Johnson, Francis, Simon, Sanford R.

Journal:

Journal of Enzyme Inhibition and Medicinal Chemistry

Year:

2014

Language:

english

File:

PDF, 508 KB

english, 2014

35

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

Griffin, Laurie B., Sakaguchi, Reiko, McGuigan, David, Gonzalez, Michael A., Searby, Charles, Züchner, Stephan, Hou, Ya-Ming, Antonellis, Anthony

Journal:

Year:

2014

Language:

english

File:

PDF, 560 KB

english, 2014

36

Quiz Case

Lehman, David A., Mancuso, Anthony A., Antonelli, Patrick J.

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

37

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

Motley, William W., Seburn, Kevin L., Nawaz, Mir Hussain, Miers, Kathy E., Cheng, Jun, Antonellis, Anthony, Green, Eric D., Talbot, Kevin, Yang, Xiang-Lei, Fischbeck, Kenneth H., Burgess, Robert W., B

Journal:

Year:

2011

Language:

english

File:

PDF, 8.93 MB

english, 2011

38

Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

Antonellis, Anthony, Huynh, Jimmy L., Lee-Lin, Shih-Queen, Vinton, Ryan M., Renaud, Gabriel, Loftus, Stacie K., Elliot, Gene, Wolfsberg, Tyra G., Green, Eric D., McCallion, Andrew S., Pavan, William J

Journal:

Year:

2008

Language:

english

File:

PDF, 942 KB

english, 2008

39

Synthesis and Electrochemical Evaluation of Multivalent Vanadium Hydride Gels for Lithium and Hydrogen Storage

Morris, Leah, Smith, Luke Anthony Charles, Trudeau, Michel L., Antonelli, David M.

Journal:

The Journal of Physical Chemistry C

Year:

2016

Language:

english

File:

PDF, 708 KB

english, 2016

40

Epineurial Pseudocysts of the Intratemporal Facial Nerve

Pertzborn, Sarah L., Reith, John D., Mancuso, Anthony A., Antonelli, Patrick J.

Journal:

Otology & Neurotology

Year:

2003

Language:

english

File:

PDF, 275 KB

english, 2003

41

Extramedullary Hematopoiesis Presenting as a Middle Ear Mass

Aronsohn, Michael S., Antonelli, Patrick J., Mancuso, Anthony

Journal:

Otology & Neurotology

Year:

2003

Language:

english

File:

PDF, 231 KB

english, 2003

42

Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development

Lopez-Anido, Camila, Poitelon, Yannick, Gopinath, Chetna, Moran, John J., Ma, Ki Hwan, Law, William D., Antonellis, Anthony, Feltri, M. Laura, Svaren, John

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.50 MB

english, 2016

43

SPIE Proceedings [SPIE Defense and Security - Orlando, Florida, USA (Monday 28 March 2005)] Photonics for Port and Harbor Security - A remote optical system for port and harbor defense

Blackmon, Fletcher A., DeWeert, Michael J., Saito, Theodore T., Antonelli, Lynn T., Kalinowski, Anthony

Year:

2005

Language:

english

File:

PDF, 625 KB

english, 2005

44

ChemInform Abstract: New Rare-Earth Metal Germanides with Bismuth Substitution. Synthesis, Structural Variations, and Magnetism of the RE[Bi x Ge 1-x ] 2 (RE: Y, Pr, Nd, Sm, Gd-Tm, Lu) Compounds.

Zhang, Jiliang, Hmiel, Benjamin, Antonelli, Anthony, Tobash, Paul H., Bobev, Svilen, Saha, Shanta, Kirshenbaum, Kevin, Greene, Richard L., Paglione, Johnpierre

Journal:

Year:

2013

Language:

english

File:

PDF, 23 KB

english, 2013

45

A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures

Griffin, Laurie Beth, Farley, Frances A., Antonellis, Anthony, Keegan, Catherine E.

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.67 MB

english, 2016

46

SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2

Fogarty, Elizabeth A., Brewer, Megan H., Rodriguez-Molina, Jose F., Law, William D., Ma, Ki H., Steinberg, Noah M., Svaren, John, Antonellis, Anthony

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

47

Correspondence

Mark Little, Chris Sharp, Alessandro Antonelli, Giovanni Silvana, Fabrizio Bianchi, Carmelo Gambuzza, Luigi Tana, Poupak Fallahi, Lidio Baschier, Anthony Seaton, J. Britton and Sarah Lewis

Journal:

Occupational and Environmental Medicine

Year:

1996

Language:

english

File:

PDF, 686 KB

english, 1996

48

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Oprescu, Stephanie N., Griffin, Laurie B., Beg, Asim A., Antonellis, Anthony

Journal:

Year:

2016

Language:

english

File:

PDF, 1.59 MB

english, 2016

49

Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay

Orenstein, Naama, Weiss, Karin, Oprescu, Stephanie N., Shapira, Rivka, Kidron, Dvora, Vanagaite-Basel, Lina, Antonellis, Anthony, Muenke, Maximilian

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.35 MB

english, 2016

50

Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease

Meyer-Schuman, Rebecca, Antonellis, Anthony

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017