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M. Zeigler · SciRah

Researcher profile · Semantic Scholar

M. Zeigler

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M. Zeigler — researcher profile on SciRah

h-index: 19
Works: 32
Citations: 2,608

Most-cited papers

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
E. Carstea, Jill A. Morris, Katherine G. Coleman, S. Loftus +34 more
1997Science1,481 citations
Semantic Scholar
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
Annick Raas-Rothschild, V. Cormier-Daire, Ming-Wei Bao, Emmanuelle Génin +8 more
2000Journal of Clinical Investigation189 citations Open access
Semantic Scholar
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
R. Spiegel, G. Bach, V. Sury, Getu Mengistu +5 more
2005Molecular Genetics and Metabolism119 citations
Semantic Scholar
The clinical spectrum of fetal Niemann–Pick type C
R. Spiegel, A. Raas-Rothschild, O. Reish, M. Regev +9 more
2009American Journal of Medical Genetics. Part A98 citations
Semantic Scholar
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation
J. Stein, Ben Zion Garty, Y. Dror, E. Fenig +2 more
2007European Journal of Pediatrics77 citations
Semantic Scholar
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
R. Bargal, M. Zeigler, B. Abu-Libdeh, Vivi Zuri +8 more
2006Molecular Genetics and Metabolism75 citations
Semantic Scholar
Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect.
M. Macarov, M. Zeigler, J. P. Newman, D. Strich +3 more
2007Journal of Intellectual Disability Research70 citations
Semantic Scholar
Adult-Onset Niemann-Pick Type C Disease: Clinical, Biochemical, and Genetic Study
A. Lossos, I. Schlesinger, Elimelech Okon, O. Abramsky +3 more
199740 citations
Semantic Scholar
Mucolipidosis Type IV: The Effect of Increased Lysosomal pH on the Abnormal Lysosomal Storage
Aviram Kogot-Levin, M. Zeigler, A. Ornoy, G. Bach
2009Pediatric Research38 citations
Semantic Scholar
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
O. Zschenker, Nikola Jung, J. Rethmeier, Sabine Trautwein +3 more
2001Journal of Lipid Research36 citations Open access
Semantic Scholar
Krabbe disease: increased incidence in a highly inbred community.
J. Zlotogora, R. Regev, M. Zeigler, T. Iancu +3 more
1985American journal of medical genetics33 citations
Semantic Scholar
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
V. Meiner, S. Shpitzen, H. Mandel, A. Klar +9 more
2001Genetics in Medicine31 citations Open access
Semantic Scholar
A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
N. Zelnik, M. Mahajna, T. Iancu, R. Sharony +1 more
2007Pediatric Neurology27 citations
Semantic Scholar
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
M. Zeigler, V. Meiner, J. P. Newman, B. Steiner-Birmanns +8 more
2014Journal of Neurological Sciences26 citations
Semantic Scholar
Prevention of lysosomal storage disorders in Israel.
G. Bach, M. Zeigler, J. Zlotogora
2007Molecular Genetics and Metabolism26 citations
Semantic Scholar
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
V. Molho-Pessach, R. Bargal, Y. Abramowitz, V. Doviner +5 more
2007Journal of American Academy of Dermatology26 citations
Semantic Scholar
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping
G. Maydan, B. Andresen, P. P. Madsen, M. Zeigler +4 more
2006Journal of Inherited Metabolic Disease22 citations
Semantic Scholar
The metabolism of glycosaminoglycans is impaired in prion diseases.
Tehila Mayer-Sonnenfeld, M. Zeigler, Michele Halimi, Y. Dayan +3 more
2005Neurobiology of Disease22 citations Open access
Semantic Scholar
Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis
M. Zeigler, R. Bargal, V. Suri, B. Meidan +1 more
1992Prenatal Diagnosis19 citations
Semantic Scholar
Gaucher disease type I and pregnancy.
J. Zlotogora, Michal Sagi, M. Zeigler, G. Bach
1989American journal of medical genetics19 citations
Semantic Scholar
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
Daniel Landau, D. Cohen, Hanna Shalev, V. Pinsk +3 more
2004Molecular Genetics and Metabolism18 citations
Semantic Scholar
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
A. Brautbar, D. Elstein, A. Abrahamov, M. Zeigler +4 more
2003Blood Cells, Molecules & Diseases17 citations
Semantic Scholar
Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide.
M. Zeigler, J. Zlotogora, R. Regev, Arie Dagan +2 more
1984Clinica chimica acta; international journal of clinical chemistry17 citations
Semantic Scholar
Krabbe disease in Israel.
Joel Zlotogora, E. Levy-Lahad, C. Legum, Theodore C. Iancu +2 more
1991Israel journal of medical sciences16 citations
Semantic Scholar
Prenatal diagnosis for arginase deficiency by second‐trimester fetal erythrocyte arginase assay and first‐trimester ARG1 mutation analysis
S. Korman, A. Gutman, E. Stemmer, B. Kay +2 more
2004Prenatal Diagnosis15 citations
Semantic Scholar
Hyperargininemia: a family with a novel mutation in an unexpected site.
Y. Cohen, R. Bargal, M. Zeigler, Tal Markus-Eidlitz +2 more
2011JIMD Reports14 citations Open access
Semantic Scholar
Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation
I. Gluck, M. Zeigler, R. Bargal, E. Schiff +1 more
1998Human Mutation12 citations Open access
Semantic Scholar
Genetic screening for Krabbe disease: Learning from the past and looking to the future
M. Macarov, J. Zlotogora, V. Meiner, Z. Khatib +6 more
2011American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Phenotypic Heterogeneity in Patients with Gaucher Disease and the N370S/V394L Genotype
D. Elstein, C. Scott, M. Zeigler, A. Abrahamov +1 more
2005Genetic Testing8 citations
Semantic Scholar
Mucolipidosis III type C: first‐trimester biochemical and molecular prenatal diagnosis
T. Falik-Zaccai, M. Zeigler, R. Bargal, G. Bach +2 more
2003Prenatal Diagnosis8 citations
Semantic Scholar
Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza
H. Mandel, Deeksha S. Bali, P. Kishnani, G. Bar-Joseph +8 more
20111 citations
Semantic Scholar
Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]
R. Bargal, M. Zeigler, B. Abu-Libdeh, Vivi Zuri +8 more
20071 citations
Semantic Scholar

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