Elpeleg, O N: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Zehavi, Yoav, Mandel, Hanna, Zehavi, Arie, Rashid, Muhammad Abu, Straussberg, Rachel, Jabur, Banan, Shaag, Avraham, Elpeleg, Orly, Spiegel, Ronen

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

2

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 371 KB

english, 1999

3

Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria

O.N. Elpeleg, A.B. Saada, A. Shaag, J.Z. Glustein, W. Ruitenbeek, I. Tein, J. Halevy

Journal:

Year:

1997

Language:

english

File:

PDF, 55 KB

english, 1997

4

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 251 KB

english, 2010

5

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 27 KB

english, 2010

6

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, Stanley H. Korman, Alexander Lossos, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Jerry Vockley, Gerard T. Berry, Anne-Marie Lamhonwah, Dietrich

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

7

Leukoencephalopathy with accumulated succinate is indicative ofSDHAF1related complex II deficiency

Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

8

West syndrome caused by ST3Gal-III deficiency

Edvardson, Simon, Baumann, Anna-Maria, Mühlenhoff, Martina, Stephan, Oliver, Kuss, Andreas W., Shaag, Avraham, He, Liqun, Zenvirt, Shamir, Tanzi, Raimo, Gerardy-Schahn, Rita, Elpeleg, Orly

Journal:

Year:

2013

Language:

english

File:

PDF, 246 KB

english, 2013

9

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Stepensky, Polina, Keller, Baerbel, Buchta, Mary, Kienzler, Anne-Kathrin, Elpeleg, Orly, Somech, Raz, Cohen, Sivan, Shachar, Idit, Miosge, Lisa A., Schlesier, Michael, Fuchs, Ilka, Enders, Anselm, Eib

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 827 KB

english, 2013

10

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

Tein, Ingrid, Elpeleg, Orly, Ben-Zeev, Bruria, Korman, Stanley H., Lossos, Alexander, Lev, Dorit, Lerman-Sagie, Tally, Vockley, Gerard, Berry, Gerard T., Lamhownah, Anne-Marie, Matern, Dieter, Roe, Ch

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 15 KB

english, 2007

11

Nemaline body myopathy caused by a novel mutation in troponin T1 ( TNNT1 )

Abdulhaq, Ulla Najwa, Daana, Mohannad, Dor, Talia, Fellig, Yakov, Eylon, Sharon, Schuelke, Markus, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon

Journal:

Year:

2016

Language:

english

File:

PDF, 370 KB

english, 2016

12

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranch

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.21 MB

english, 2018

13

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Orly N. Elpeleg, Avraham Shaag, Joseph Z. Glustein, Yair Anikster, Adina Joseph, Ann Saada

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

14

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

Stephen I. Goodman, Donna E. Stein, Sudha Schlesinger, Ernst Christensen, Marianne Schwartz, Cheryl R. Greenberg, Orly N. Elpeleg

Journal:

Year:

1998

Language:

english

File:

PDF, 245 KB

english, 1998

15

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink, Roel Smeets, Sylvia Stöckler-Ipsiroglu, Hanna Mandel, Rob Sengers, Frans Trijbels, Lambert Van Den Heuvel

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.56 MB

english, 2001

16

Transmission of the mitochondrial t8993c mutation in a new family

Haggit Hurvitz, Yaron Naveh, David Shoseyov, Aharon Klar, Avraham Shaag, Orly Elpeleg

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

17

Antenatal presentation of carnitine palmitoyltransferase II deficiency

Orly N. Elpeleg, Cathy Hammerman, Ann Saada, Avraham Shaag, Elena Golzand, Drorith Hochner-Celnikier, Itai Berger, Michel Nadjari

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 203 KB

english, 2001

18

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay, Julian Raiman, Deborah L. Renaud, Joe T.R. Clarke, Annette Feigenbaum, Orly Elpeleg, Brian H. Robinson

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 397 KB

english, 2006

19

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

S. Edvardson, C. Jalas, A. Shaag, S. Zenvirt, C. Landau, I. Lerer, O. Elpeleg

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 97 KB

english, 2011

20

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, Michael Nadjari, Sharon Zeligson, Avraham Shaag, Shamir Zenvirt, Orly Elpeleg, Ephrat Levy-Lahad

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 311 KB

english, 2011

21

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

Orly Elpeleg, Avraham Shaag, Efrat Ben-Shalom, Tal Schmid, Claude Bachmann

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

22

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Chaya Miller, Ann Saada, Nava Shaul, Naama Shabtai, Efrat Ben-Shalom, Avraham Shaag, Eli Hershkovitz, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 122 KB

english, 2004

23

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

24

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A. Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 709 KB

english, 2009

25

3-Methylglutaconic aciduria in “optic atrophy plus”

Dr. Hanan Costeff, Orly Elpeleg, Naomi Apter, Priscille Divry, Natan Gadoth

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 226 KB

english, 1993

26

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I

Orly N. Elpeleg, Avraham Shaag, Elizabeth Holme, Ghaleb Zughayar, Suzi Ronen, Drora Fisher, Haggit Hurvitz

Journal:

Year:

2002

Language:

english

File:

PDF, 61 KB

english, 2002

27

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

Ann Saada, Maskit Bar-Meir, Corinne Belaiche, Chaya Miller, Orly Elpeleg

Journal:

Analytical Biochemistry

Year:

2004

Language:

english

File:

PDF, 241 KB

english, 2004

28

Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi

Varda Barash, Orly Elpeleg, Ruth Sheffer, Hanna Mandel, Ronald J. A. Wanders

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 87 KB

english, 1988

29

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Shmuel Arnon, Rami Aviram, Tzipora Dolfin, Rivka Regev, Ita Litmanovits, Ronnie Tepper, Orly N. Elpeleg

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 134 KB

english, 2002

30

Complications following oat head aspiration

Dr. C. H. Maayan, A. Avital, O. N. Elpeleg, C. Springer, S. H. Katz, S. Godfrey

Journal:

Pediatric Pulmonology

Year:

1993

Language:

english

File:

PDF, 218 KB

english, 1993

31

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis

O. N. Elpeleg, A. Shaag, Y. Anikster, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 417 KB

english, 1994

32

Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis

M. J. Bennett, K. M. Gibson, W. G. Sherwood, P. Divry, M. O. Rolland, O. N. Elpeleg, P. Rinaldo, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 377 KB

english, 1993

33

3-Methylglutaconic aciduria with persistent metabolic acidosis and ‘uncoupling episodes’

O. N. Elpeleg, D. Meiron, V. Barash, Y. Hurwitz, I. Tal, N. Amir

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 196 KB

english, 1990

34

β-Ketothiolase (2-methylacetoacetyl-coenzyme a thiolase) deficiency: identification of two patients in israel

K. M. Gibson, O. N. Elpeleg, M. J. Bennett

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 170 KB

english, 1996

35

Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria

O. N. Elpeleg, E. Christensen, H. Hurvitz, D. Branski

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 352 KB

english, 1990

36

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

H. Hurvitz, O. N. Elpeleg, V. Barash, E. Kerem, R. M. Reifen, W. Ruitenbeek, C. Mor, D. Branski

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 1.09 MB

english, 1989

37

Late-onset form of partial N-acetylglutamate synthetase deficiency

O. N. Elpeleg, J. P. Colombo, N. Amir, C. Bachmann, H. Hurvitz

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 307 KB

english, 1990

38

Anaesthetic management of a patient with Leigh’s syndrome

Ze’ev Shenkman, Igor Krichevski, Orly N. Elpeleg, Adina Joseph, Avishag Kadari

Journal:

Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Year:

1997

Language:

english

File:

PDF, 492 KB

english, 1997

39

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

Orly Elpeleg, Hanna Mandel, Ann Saada

Journal:

Journal of Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

40

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation

R. Spiegel, A. Shaag, A. Gutman, S. H. Korman, A. Saada, O. Elpeleg, S. A. Shalev

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 126 KB

english, 2007

41

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K. Chung, Reeval Segel, Chaya Miller, Chaim Jalas, Orly Elpeleg

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

42

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 99 KB

english, 2009

43

10.1038/ng751

Saada, Ann, Shaag, Avraham, Mandel, Hanna, Nevo, Yoram, Eriksson, Staffan, Elpeleg, Orly

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 499 KB

english, 2001

44

10.1038/ng746

Mandel, Hanna, Szargel, Raymonde, Labay, Valentina, Elpeleg, Orly, Saada, Ann, Shalata, Adel, Anbinder, Yefim, Berkowitz, Drora, Hartman, Corina, Barak, Mila, Eriksson, Staffan, Cohen, Nadine

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.68 MB

english, 2001

45

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients

O. N. Elpeleg, A. Shaag

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 50 KB

english, 1999

46

Prenatal diagnosis of Canavan disease — Problems and dilemmas

G. T. N. Besley, O. N. Elpeleg, A. Shaag, N. J. Manning, C. Jakobs, J. H. Walter

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 58 KB

english, 1999

47

Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency

O.N. Elpeleg, S.H. Korman

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

48

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

Hanna Mandel, Corina Hartman, Drora Berkowitz, Orli N. Elpeleg, Irena Manov, Theodore C. Iancu

Journal:

Year:

2001

Language:

english

File:

PDF, 1.07 MB

english, 2001

49

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Simon Edvardson, Yuval Cinnamon, Chaim Jalas, Avraham Shaag, Channa Maayan, Felicia B. Axelrod, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 952 KB

english, 2012

50

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodo

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски