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Carla Ciccone

Research Profile

Disorders

Chemicals & Drugs

Physiology

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DNA Mutational Analysis

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Single Nucleotide Polymorphism

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Publications

TOP 3
Galina Nesterova; Toshiyuki Sakaki; Thierry Vilboux; Kaori Yasuda; David Adams; Cornelius F Boerkoel; Carla Ciccone; Michael T Collins; Gretchen Golas; Ronald Horst; Yan Huang; Marjan Huizing; Wendy Introne; May Christine Malicdan; William A Gahl
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Terren K Niethamer; Tal Yardeni; Patricia M Zerfas; Katherine Jacobs; Petcharat Leoyklang; Adrian Astiz-Martinez; Carla Ciccone; Heidi Dorward; William A Gahl; Marjan Huizing
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Sravan Kakani; Enriko D Klootwijk; Jeffrey B Kopp; Irini Manoli; Terren Niethamer; Justin Poling; Kelly G Ten Hagen; E Tian; Tal Yardeni; Patricia Zerfas; Carla Ciccone; Daniel Darvish; William A Gahl; Shelley Hoogstraten-Miller; Marjan Huizing
The Gne M712T mouse as a model for human glomerulopathy.

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All Publications

2013: Galina Nesterova; Toshiyuki Sakaki; Thierry Vilboux; Kaori Yasuda; David Adams; Cornelius F Boerkoel; Carla Ciccone; Michael T Collins; Gretchen Golas; Ronald Horst; Yan Huang; Marjan Huizing; Wendy Introne; May Christine Malicdan; William A Gahl
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Clinical journal of the American Society of Nephrology : CJASN 2013;8(4):649-57.
2012: Terren K Niethamer; Tal Yardeni; Patricia M Zerfas; Katherine Jacobs; Petcharat Leoyklang; Adrian Astiz-Martinez; Carla Ciccone; Heidi Dorward; William A Gahl; Marjan Huizing
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Molecular genetics and metabolism 2012;107(4):748-55.
2012: Sravan Kakani; Enriko D Klootwijk; Jeffrey B Kopp; Irini Manoli; Terren Niethamer; Justin Poling; Kelly G Ten Hagen; E Tian; Tal Yardeni; Patricia Zerfas; Carla Ciccone; Daniel Darvish; William A Gahl; Shelley Hoogstraten-Miller; Marjan Huizing
The Gne M712T mouse as a model for human glomerulopathy.
The American journal of pathology 2012;180(4):1431-40.
2011: Tal Yardeni; Katherine Jacobs; Natalya Kurochkina; Katherine Patzel; Yair Anikster; Tsering Choekyi; Carla Ciccone; William A Gahl; Marjan Huizing
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
Biochemistry 2011;50(41):8914-25.
2011: Andrew R Cullinane; James A Curry; Hannah Carlson-Donohoe; Carla Ciccone; Meral Gunay-Aygun; Marjan Huizing; Thomas C Markello; Dawn M Maynard; Kevin O'Brien; Thierry Vilboux; William A Gahl
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
The Journal of investigative dermatology 2011;131(10):2017-25.
2011: Andrew R Cullinane; James A Curry; Heidi Dorward; David Adams; Nicholas D Cardillo; Carmelo Carmona-Rivera; Carla Ciccone; Richard A Hess; Marjan Huizing; C Gail Summers; James G White; William A Gahl
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
American journal of human genetics 2011;88(6):778-87.
2011: Thierry Vilboux; Wendy J Introne; Ann C M Smith; Jan Blancato; Carla Ciccone; Gerald F Cox; Charu Deshpande; William A Gahl; Marjan Huizing
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
PloS one 2011;6(8):e22861.
2010: Lisa M Vincent; Fred Gilbert; Jennifer I DiPace; Carla Ciccone; Thomas C Markello; Andrew Jeong; Heidi Dorward; Wendy Westbroek; William A Gahl; James B Bussel; Marjan Huizing
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Molecular genetics and metabolism 2010;101(1):62-5.
2010: Wuhong Pei; Lisa Kratz; Isa Bernardini; Raman Sood; Tohei Yokogawa; Heidi Dorward; Carla Ciccone; Richard I Kelley; Yair Anikster; Harold A Burgess; Marjan Huizing; Benjamin Feldman
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development (Cambridge, England) 2010;137(15):2587-96.
2008: Riko D Klootwijk; Paul J Savelkoul; Carla Ciccone; Irini Manoli; Natasha J Caplen; Donna Krasnewich; William A Gahl; Marjan Huizing
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3846-52.
2007: Belinda Galeano; Riko Klootwijk; Irini Manoli; MaoSen Sun; Carla Ciccone; Daniel Darvish; Matthew F Starost; Patricia M Zerfas; Victoria J Hoffmann; Shelley Hoogstraten-Miller; Donna Krasnewich; William A Gahl; Marjan Huizing
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
The Journal of clinical investigation 2007;117(6):1585-94.
2007: Susan E Sparks; Goran Rakocevic; Galen Joe; Irini Manoli; Joseph Shrader; Michael Harris-Love; Barbara C Sonies; Carla Ciccone; Heidi Dorward; Donna Krasnewich; Marjan Huizing; Marinos C Dalakas; William A Gahl
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
BMC neurology 2007;7():3.
2006: Paul J Savelkoul; Irini Manoli; Susan E Sparks; Carla Ciccone; William A Gahl; Donna Krasnewich; Marjan Huizing
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Molecular genetics and metabolism 2006;88(4):389-90.
2005: Susan E Sparks; Carla Ciccone; Molly Lalor; Eduard Orvisky; Riko Klootwijk; Paul J Savelkoul; Marinos C Dalakas; Donna Krasnewich; William A Gahl; Marjan Huizing
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Glycobiology 2005;15(11):1102-10.
2005: Emily Gottlieb; Carla Ciccone; Daniel Darvish; Shahrouz Naiem-Cohen; Marinos C Dalakas; Paul J Savelkoul; Donna Krasnewich; William A Gahl; Marjan Huizing
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.
Molecular genetics and metabolism 2005;86(1-2):244-9.