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Posters & Publications

Below is a list our publications and poster presentations through fruitful collaboration.

Publications

Publications in collaboration with other investigators.

  1. Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D. Wolman Disease (LIPA p.G87V) Genotype Frequency in People of Iranian-Jewish Ancestry. Genet Test Mol Biomarkers. 2011 Feb 3.
  2. Saechao C, Valles-Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, Mendell JR, Rosales-Quintero X, Felice KJ, Morel CF, Pietruska M, Darvish D. Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent. Genet Test Mol Biomarkers. 2010 Jan 10.
  3. Haghighatgoo A, Valles-Ayoub Y, Saechao C, Esfandiarifard S, Martinez SL, Pietruszka M, Darvish D. MTHFR C677T Genotype Frequency in Patients of Middle Eastern Descent as Determined by Real-Time PCR and Melting Curve Analysis. Genet Test Mol Biomarkers. 2009 Jul 13.
  4. Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples P. Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2). Gene Regulation and Systems Biology, Jun 20, 2008, 2008(2):243-252.
  5. Valles-Ayoub Y, Saechao C, Haghighatgoo A, Neshat MS, Esfandiarifard S, Pietruszka M, Darvish D. Validation of GNE:p.M712T Identification by Melting Curve Analysis. Genet Test. 2008 Spring;12(1):101-9. PMID: 18373408.
  6. Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255.
  7. Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman H, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, Mendell JR. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006 Oct;65(10):995-1003.
  8. Fisher J, Towfighi, J, Darvish D, Simmons Z. A Case of Hereditary Inclusion Body Myopathy: 1 Patient, 2 Novel Mutations. Journal of Clinical Neuromuscular Disease. June 2006, 7(4):179-184.
  9. Gottlieb E, Ciccone C, Darvish D, Naiem S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M. Single Nucleotide Polymorphisms within the Dystroglycan Gene in Hereditary Inclusion Body Myopathy. Mol Genet Metab. 2005 Sep-Oct;86(1-2):244-9. PMID: 16112887.
  10. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21. PMID: 15034582.
  11. Darvish D. Magnesium (Mg++), and other dietary modifications for patients affected with IBM2 (MIM:600737), a review of pathology. Med Hypotheses, Jan 2003. PMID: 12450772.
  12. Darvish D, Vahedifar P, Huo Y. 4 novel mutations associated with autosomal recessive inclusion body myopathy (MIM:600737). Mol Genet Metab, Nov 2002. PMID: 12409274.

Poster Presentations

Posters in collaboration with other investigators. Most recent on top.

2010

  1. Yadira Valles-Ayoub, Zeshan Khokher, Arman Haghighatgoo, Daniel No, Saghi Esfandiarifard, Chai Saechao, Jennifer Kay, Christopher Creencia, Sheila Darvish, Daniel Darvish. Background Strain and Natural Selection Improves Survival of HIBM Mouse Model. American Society of Gene nd Cell Therapy (ASGCT), 13th annual meeting, Washington, DC, May 19 – May 23, 2010.
  2. Yadira Valles-Ayoub, Daniel No, Saghi Esfandiarifard, Zeshan Khokher, Chai Saechao, Marvin Pietruszka, Daniel Darvish. Wolman Disease (LIPA p.G87V) Genotype Frequency in Patients of Iranian-Jewish Descent. American Society of Gene nd Cell Therapy (ASGCT), 13th annual meeting, Washington, DC, May 19 – May 23, 2010.
  3. Tal Yardeni, Carla Ciccone, Shelley Hoogstraten-Miller, Daniel Darvish, Yair Anikster, Phil Maples, Chris Jay, William A. Gahl, John Nemunaitis, Marjan Huizing. Non-Viral, GNE-Lipoplex Treatment to Correct Sialylation Defects in Gne-Mutant (M712T) Mice
  4. Mishra S., Broccolini A., Valles-Ayoub Y., Cornford M., Darvish D., Cardenas D., Saechao C., No D., Singh P. Non-GNE Related Quadriceps Sparing Myopathy: A Case Report. American Academy of Neurology (AAN), 62nd Annual Meeting Metro Toronto Convention Centre, Toronto, Canada, Apr 10-17, 2010.

2009

  1. Yadira Valles-Ayoub; Chai Saechao; Arman Haghighatgoo; Zeshan Khokher; Daniel No; Sarah Lynn Martinez; Ishita Shah; Saghi Esfandiarifard; Amin Chris Riley-Portuges; Chris Jay; Marvin Pietruszka1; Daniel Darvish. Improved Colorimetric (TBA) Sialic Acid Assay Validated by GNE Transduc on of Gne-null Lec3 CHO cells. Glyco 2009 Session: Glycobiology of Disease - Poster Session I - F. San Diego, CA, Nov 12-15, 2009.
  2. Marjan Huizing; Justin Poling; Carla Ciccone; Lisa Vincent; Tal Yardeni; Heidi Dorward; Daniel Darvish; William A Gah. Hyposialylation of various glomerulopathies and possible rescue by N-acetylmannosamine. Glyco2009 Session: Glycobiology of Recognition: Protein-Carbohydrate Interactions - 5:40 - 5:45 pm. San Diego, CA, Nov 12-15, 2009.
  3. C. Saechao, Y. Valles-Ayoub, A. Haghighatgoo, Z. Khokher, D. No, S. L. Martinez, I. Shah, S. Esfandiarifard, A. C. Riley-Portuges, C. Jay, M. Pietruszka, D. Darvish. Improved colorimetric (TBA) sialic acid assay validated by GNE transduction of Gne-null Lec3 CHO cells.(360) (2:00PM-3:00PM on Wed). American Society of Human Genetics, 59th Annual Meeting, Honolulu, HI, Oct 20-24, 2009.
  4. Y. Valles-Ayoub, C. Saechao, A. Haghighatgoo, Z. Khokher, D. No, S. L. Martinez, I. Shah, S. Esfandiarifard, A. C. Riley-Portuges, C. Jay, M. Pietruszka, D. Darvish. Development and functional analysis of wildtype and R266Q GNE expression plasmids.(545) (1:00PM-2:00PM on Wed). American Society of Human Genetics, 59th Annual Meeting, Honolulu, HI, Oct 20-24, 2009.

2008

  1. Justin S. Poling; Irini Manoli; Riko Klootwijk; David Kurland; Carla Ciccone; Katherine Patzel; Daniel Darvish; Patricia Zerfas; Matthew Starost; Heidi Dorward; William A. Gahl; Marjan Huizing. Hyposialylation in various glomerulopathies and possible rescue by N-acetylmannosamine. Glyco2008 Session: Glycobiology of Disease - 50. San Diego, CA, Nov 12-15, 2008. Fort Worth, TX, Nov 12-15, 2008.
  2. C. Saechao, Y. Valles-Ayoub, A. Haghighatgoo, S. Esfandiarifard, C. Riley, M. Pietruszka, D. Darvish. Novel GNE mutations in patients of non-Middle Eastern descent with autosomal recessive hereditary inclusion body myopathy. (1457) (4:30PM-6:30PM on Wed). American Society of Human Genetics, 58th Annual Meeting, Philadelphia, PA, Nov 11-15, 2008.
  3. A. Haghighatgoo, Y. Valles-Ayoub, C. Saechao, S. Esfandiarifard, S. Martinez, M. Pietruszka, D. Darvish. Prevalence of the MTHFR C677T polymorphism in patients of Middle Eastern descent. (1579) (10:30AM-12:30PM on Fri). American Society of Human Genetics, 58th Annual Meeting, Philadelphia, PA, Nov 11-15, 2008.
  4. I. Manoli, E. Klootwijk, S. Sparks, M. Ziats, D. Hickey, C. Ciccone, P. Zerfas, M. Starost, D. Darvish, D. Krasnewich, W. Gahl, M. Huizing. N-Acetylmannosamine for the Treatment of Muscle and Kidney Disease: From Mouse to Bedside. (780) (4:30PM-6:30PM on Thu). American Society of Human Genetics, 58th Annual Meeting, Philadelphia, PA, Nov 11-15, 2008.
  5. M. Ziats, D. Kurland, D. Hickey, R. Klootwijk, I. Manoli, K. Patzel, C. Ciccone, P. Zerfas, M. Starost, D. Darvish, WA. Gahl, M. Huizing. Kidney and muscle phenotypes due to hyposialylation in a mouse model of Hereditary Inclusion Body Myopathy. (1422) (4:30PM-6:30PM on Wed). American Society of Human Genetics, 58th Annual Meeting, Philadelphia, PA, Nov 11-15, 2008.
  6. C. Jay, S. Hinderlich, D. Darvish, G. Nemunaitis, N. Senzer, J. Ogden, A.W. Tong, P.B. Maples, J. J. Nemunaitis. In Vitro Assessment of GNE-Wt Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2). Poster 823. American Society of Gene Therapy, 11th annual meting, Boston, MA, May 28 – June 1, 2008.

2007

  1. D. Darvish, Y. Valles, S. Darvish, J. Orozco, O. Scremin, G. Lawson, B. Darvish. Mixed Inbred GneM712T/M712T Mice Show Increased Survival, Attenuated Kidney Disease, and Altered NeuGc/NeuAc Profile. Poster #971. American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA.
  2. Y. Valles-Ayoub, C. Saechao, A. Haghighatgoo, M. S. Neshat, M. Pietruszka, D. Darvish. Validation of GNE:pM712T Identification by Melting Curve Analysis. Poster #1256. American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA.
  3. E. Klootwijk, I. Manoli, D. Hickey, C. Ciccone, D. Darvish, D. Krasnewich, W. A. Gahl, M. Huizing. N-acetylmannosamine therapy for podocytopathies and other kidney disorders due to hyposialylation. Poster #2246. American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA.
  4. Enriko D Klootwijk; Irini Manoli; Belinda Galeano; Dominic Hickey; Wesley Bond; Carla Ciccone; Daniel Darvish; 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. Glyco2007 Session: - ps1: Monday Poster S. Boston, MA, Nov 2007.

2006

  1. M. Huizing, R Klootwijk; V. Galeano, I. Manoli, M. Sun, C. Ciccone, D. Darvish, D. Krasnewich, W. A. Gahl. N-Acetylmannosamine treatment rescues a mouse model of Hereditary Inclusion Body Myopathy. Society of Glycobiology, 2006 Annual Meeting, Los Angeles, CA.
  2. PB. Maples, D Darvish, G Nemunaitis, E Chang, J Ogden, J Nemunaitis. GNE Gene Replacement in Hereditary Inclusion Body Myopathy. Molecular Therapy 13, S215 - S216 (01 May 2006) Abstract.
  3. PB Maples, PhD; D Darvish, MD; G Nemunaitis, MD; E Chang, PhD; J Ogden, RN, J Nemunaitis, MD. GNE Gene Replacement in Hereditary Inclusion Body Myopathy (poster #560). American Society of Gene Therapy, 9th annual meting, Baltimore, MD, May 31 – June 4, 2006.
  4. Marjan Huizing; Riko Klootwijk; Belinda Galeano; Irini Manoli; Mao-Sen Sun; Carla Ciccone; Daniel Darvish; Donna Krasnewich; William A Gahl. N-Acetylmannosamine treatment rescues a mouse model of Hereditary Inclusion Body Myopathy. Glyco2006 Poster Session. Los Angeles, CA, Nov 2006.

2005

  1. C Shilling, D Darvish, SA. Moore, JT. Kissel, Columbus, W King, X Rosales, C Wall, JR. Mendell. Phenotypic marker variability in calpainopathy patients of North America. American Academy of Neurology, 57th Annual Meeting, Miami, FL, April 9-16, 2005.

2004

  1. E. Gottlieb, C. Ciccone, D. Darvish, S. Naiem, P. Savelkoul, D. Krasnewich, W. Gahl, M. Huizing. Correlation between the age of onset/severity of Hereditary Inclusion Body Myopathy and polymorphisms within the dystroglycan gene. [#1709], American Society of Human Genetics, 54th Annual Meeting, Torondo, Canada, Oct 26-30, 2004.
  2. Marjan Huizing, Susan Sparks, Paul Savelkoul, Emily Gottlieb, Carla Ciccone, Mao-Sen Sun, Daniel Darvish, Shahrouz Naiem, Goran Rakocevic, Marinos Dalakas, Donna Krasnewich and William Gahl. Evaluation of the underlying defects causing the muscle destruction in Hereditary Inclusion Body Myopathy. Glyco2004 Session: GLYCOBIOLOGY AND DISEASE - 43. Honolulu, HI, Nov 2004.

2003

  1. Watts, J. Wymer, S. Mehta, S. Mumm, M. Whyte, A. Pestronk, D. Darvish, V.E. kimonis. Mutations in the p97 gene cause familial Inclusion Body Myopathy assocated with Pagets disease of the bone and frontotemporal dementia. [#48] American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, Nov 4-8, 2003.
  2. S. Joughehdoust, Y. Shafeghati, M. Ataii, D. Darvish, M. Houshmand. Investigation of mtDNA common deletion ina patient affected with HIBM, [#719], American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, Nov 4-8, 2003.
  3. D. Darvish, S. Naiem, Y. Huo. Genotype-phenotype correlation of recessive hereditary Inclusion Body Myopathy (IBM2). [#2336], American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, Nov 4-8, 2003.
 
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