פרסום מאמרים מדעיים ד"ר רונן שפיגל

Spiege R,1 Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J,
     Edvardson S, Mahajna M, Zenvirt S, Saada A,Shalev S, Feuk L,
     Elpeleg O. Infantile cerebellar-retinal degeneration associated
     with a mutation in mitochondrial aconitase, ACO2. Am J Med
     Genet 2012; 90:518-523.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK,
     Marshall JD, Spiegel R. Extreme Clinical Variability of Dilated
     Cardiomyopathy in Two Siblings With Alström Syndrome.
     Pediatr Cardiol. 2013; 34:455-458.

Spiegel R*, Saada A*, Halvardson J, Soiferman D , Shaag A,
     Edvardson S, Horovitz Y, Khayat M , Shalev SA, Feuk L ,
     Elpeleg O. Deleterious mutation in FDX1L gene is associated
     with a novel mitochondrial muscle myopathy. Eur J Hum Gene.
     2014;22:902-6.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Morad
    Khayat, Sagüés VE, Vladovski V, Taylor RW, Bindoff LA, Shaag
    A, Mandel H, Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.
    Fatal infantile mitochondrial encephalomyopathy and hypertrophic
    cardiomyopathy and optic atrophy associated with a homozygous
    OPA1 mutation. J Med Genet 2016;53:127-131.

DiMauro S, Spiegel R. Progress and problems in muscle
glycogenoses. Acta Myologia. 2011;96-102.

Spiegel R*, Mandel H *, Saada A, Lerer I, Burger A, Shaag A,
     Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A,
     Elpeleg O, Meiner V. Delineation of C12orf65 related phenotypes:
     a genotype-phenotype relationship. Eur J Hum Genet.
     2014;22:1019-25.

Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal
     R, Sury V, Meir K, Nadjari M, Herman G, Iancu TC, Shalev SA,
     Zeigler M. The clinical spectrum of fetal Niemann Pick type C. Am
     J Med Genet. 2009; 149A:446-450.

Spiegel R, Gomez EA, Akman O, Krishna S, DiMauro S. Myopathic
     form of phosphoglycerate kinase (PGK) deficiency: A new case
     and pathogenic considerations. Neuromuscul Disord, 2009;
     19:207-11.

Spiegel R, Shalev S, Adawi A, Sprecher E, Rakover Y. ANE
     syndrome caused by mutated RBM28 gene: a novel etiology of
     combined pituitary hormone deficiency. Eur J Endocrinol. 2010;
     162:1021-25.

Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y,
     Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA.
     Expanding the clinical spectrum of SLC29A3 gene defects. Eur J
     Med Genet. 2010; 53:309-313.

Spiegel R, Horovitz Y, Peters H, Erdogan F, Chervinsky I, Shalev
     SA. A new autosomal recessive syndrome characterized by
     ocular hypertelorism, distinctive face, mental retardation,
     brachydactyly, and genital abnormalities. Am J Med Genet A.
     2009; 149A:2655–2660.

Spiegel R, Khayat M, Shalev AS, Mandel M, Hershkovitz E,
     Barguthy F, Shaag A, Saada A, Korman HS, Elpeleg O, Yatsiv
     I.TMEM70 mutations are a common cause of nuclear encoded
     ATP synthase assembly defect: Further

Spiegel R, Dobbie A, Hartman C , de Vries L, Ellard S, Shalev S.
     Clinical characterization of a newly described neonatal diabetes
     syndrome caused by RFX6 mutations. Am J Med Genet A.
     2011;155:2821-2825.

delineation of a new syndrome. J Med Genet. 2011;48:177-182.

Atay Z, Bereket A, Turan S, Haliloglu B, Memisoglu A, Khayat M,
     Shalev SA, Spiegel R. A novel homozygous TMEM70 mutation
     results in congenital cataract and neonatal mitochondrial
     encephalo-cardiomyopathy. Gene. 2013; 515:197-199.

Masarweh K, Horovitz Y, Avital A, Spiegel R. Establishing hospital
admission criteria of pediatric Henoch Schonlein purpura.
Rheumatol Int. 2014;34:1497-503.

Mandel H, Katsanelson KC, Khayat M, Chervinsky I, Vladovski E,
     Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA,
     Spiegel R. Clinico- pathological manifestations of variant late
     infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a
     novel mutation in MFSD8 gene. Eur J Med Genet. 2014;57:607-
     612.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T,
     Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz
     Chacham O, Spiegel R. Primary and Maternal 3-Methylcrotonyl-
     CoA Carboxylase Deficiency: Insights from the Israel newborn
     screening program. J Inherit Metab Dis 2016;39:211-217.

Spiegel R, Shaag A, Shalev S, Elpeleg O. Homozygous mutation in
the APOA1BP is associated with a lethal infantile
leukoencephalopathy. Neurogenetics. 2016;17:187-90.

Horovitz Y, Tanous O, Khayat M, Shaker M, Shalev S, Spiegel R.
     The diagnosis of Familial Mediterranean Fever following the initial
     presentation of monoarthritis. Int J Rheum Dis 16 June 2016
     Epub ahead of print

Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A.
     Novel homozygous missense mutation in SPG20 gene results in
     Troyer syndrome associated with mitochondrial cytochrome c
     oxidase deficiency. J Inherit Metab Dis Reports

Raas-Rothschild A, Spiegel R. Mucolipidosis III Gamma. (July 2012)
     in: GeneReviews at GeneTests: Medical Genetics Information
     Resource [database online]. Copyright, University of Washington,
     Seattle, 1997-2010. Available at http://www.genetests.org.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev
     SA, Horovitz Y, Pines O, Elpeleg O. SLC25A19 mutation as a
     cause of neuropathy and bilateral striatal necrosis. Ann Neurol.
     2009; 66:419-424.

https://pubmed.ncbi.nlm.nih.gov/20301784/

https://pubmed.ncbi.nlm.nih.gov/32541773/

https://pubmed.ncbi.nlm.nih.gov/35192225/

https://pubmed.ncbi.nlm.nih.gov/32242070/

https://pubmed.ncbi.nlm.nih.gov/30905112/

https://pubmed.ncbi.nlm.nih.gov/36507137/

https://pubmed.ncbi.nlm.nih.gov/34178707/

https://pubmed.ncbi.nlm.nih.gov/33471299/

https://pubmed.ncbi.nlm.nih.gov/34879720/

https://pubmed.ncbi.nlm.nih.gov/30637540/

https://pubmed.ncbi.nlm.nih.gov/31130326/

https://pubmed.ncbi.nlm.nih.gov/35813979/