Publications by authors named "Hanna Mandel"

100Publications

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.

Eur J Med Genet 2020 Nov 20;63(11):104020. Epub 2020 Aug 20.

Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel; The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104020DOI Listing
November 2020

homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Neurol Genet 2018 Apr 21;4(2):e223. Epub 2018 Mar 21.

Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863690PMC
April 2018

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.

J Lipid Res 2018 06 2;59(6):1015-1026. Epub 2018 Mar 2.

Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, Tochigi, Japan

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http://dx.doi.org/10.1194/jlr.P081620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983406PMC
June 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.

Pediatr Pulmonol 2018 03 22;53(3):366-373. Epub 2018 Jan 22.

Pediatric Pulmonary Institute, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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http://doi.wiley.com/10.1002/ppul.23830
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http://dx.doi.org/10.1002/ppul.23830DOI Listing
March 2018

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Eur J Paediatr Neurol 2018 May 26;22(3):525-531. Epub 2017 Dec 26.

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2017.12.012DOI Listing
May 2018

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).

Am J Med Genet A 2017 Sep 19;173(9):2461-2466. Epub 2017 Jun 19.

The Behavioral Neurogenetics Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561494PMC
September 2017

[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].

Harefuah 2017 Mar;156(3):156-162

Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.

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March 2017

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

Eur J Med Genet 2017 Jun 5;60(6):317-320. Epub 2017 Apr 5.

Pediatric Department B, Emek Medical Center, Afula, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.001DOI Listing
June 2017

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Am J Hum Genet 2016 Nov 20;99(5):1172-1180. Epub 2016 Oct 20.

The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097939PMC
November 2016

TBCK-related intellectual disability syndrome: Case study of two patients.

Am J Med Genet A 2017 Feb 17;173(2):491-494. Epub 2016 Oct 17.

Genetics Institute, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38019DOI Listing
February 2017

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

J Med Genet 2016 10 12;53(10):690-6. Epub 2016 May 12.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://jmg.bmj.com/content/early/2016/05/12/jmedgenet-2016-1
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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103922
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http://dx.doi.org/10.1136/jmedgenet-2016-103922DOI Listing
October 2016

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

Eur J Med Genet 2016 Apr 23;59(4):204-9. Epub 2016 Feb 23.

Metabolic Unit, Rambam Health Care Center, Haifa, Israel; Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1016/j.ejmg.2016.02.007DOI Listing
April 2016

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.

Child Neurol Open 2015 Oct-Dec;2(4):2329048X15609606. Epub 2015 Oct 6.

Department of Pediatrics A, Ruth Rapport Children's Hospital, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel.

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http://dx.doi.org/10.1177/2329048X15609606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417021PMC
October 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy.

J Neuromuscul Dis 2015;2(s1):S65-S66

Metabolic Laboratory, Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel.

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January 2015

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience.

J Neuromuscul Dis 2015;2(s1):S40

Metabolic Unit, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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January 2015

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Eur J Med Genet 2014 Nov-Dec;57(11-12):607-12. Epub 2014 Sep 28.

Rappaport School of Medicine, Technion Haifa, Israel; Genetic Institute, Emek Medical Center, Afula, Israel; Pediatric Department A', Emek Medical Center, Afula, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.09.004DOI Listing
July 2015

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Pediatr Neurol 2014 Apr 7;50(4):421-6. Epub 2014 Jan 7.

Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.006DOI Listing
April 2014

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.

Isr Med Assoc J 2013 Dec;15(12):777-9

Department of Pediatrics B, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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December 2013

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Eur J Hum Genet 2014 Aug 15;22(8):1019-25. Epub 2014 Jan 15.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350599PMC
August 2014

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.

Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/2051-5960-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892035PMC
January 2014

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.

Neurology 2013 Aug 24;81(9):849-50. Epub 2013 Jul 24.

Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1212/WNL.0b013e3182a2cbf2DOI Listing
August 2013

Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy.

J Proteome Res 2011 May 28;10(5):2389-96. Epub 2011 Mar 28.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Denmark.

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http://dx.doi.org/10.1021/pr101218dDOI Listing
May 2011

Prenatal brain disruption in molybdenum cofactor deficiency.

J Child Neurol 2011 Apr 31;26(4):460-4. Epub 2011 Jan 31.

Child Development Center, Macabi Health Services, Bnei-Brak, Israel.

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http://dx.doi.org/10.1177/0883073810383017DOI Listing
April 2011

Hyperpigmentation and hypotonia in a 3-month-old infant.

Acta Paediatr 2011 Mar;100(3):321, 469-70

Department of Pediatric Emergency Medicine, Hillel Yaffe Medical Center, Hadera, Israel.

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http://dx.doi.org/10.1111/j.1651-2227.2010.02117.xDOI Listing
March 2011

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

Am J Dermatopathol 2011 Feb;33(1):47-51

Departments of Dermatology, Technion Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1097/DAD.0b013e3181ee547cDOI Listing
February 2011

'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation). Diagnosis: Hereditary tyrosinaemia type I presenting as E. coli septicaemia.

Acta Paediatr 2010 Sep;99(9):1285, 1437-8

Department of Pediatrics, Bnai Zion Medical Center, The B. and R. Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1111/j.1651-2227.2010.01900.xDOI Listing
September 2010

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Ann Neurol 2009 Sep;66(3):419-24

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.21752DOI Listing
September 2009

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Mol Genet Metab 2010 Jan;99(1):26-33

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721340PMC
January 2010

Acute infantile liver failure due to mutations in the TRMU gene.

Am J Hum Genet 2009 Sep;85(3):401-7

Department of Human Genetics and Metabolic Diseases, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771591PMC
September 2009

The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer.

J Biol Chem 2009 Oct 25;284(41):28198-203. Epub 2009 Aug 25.

Department of Biochemistry, George S. Wise Faculty of Life Sciences, Tel Aviv University, 69778 Tel Aviv, Israel.

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http://dx.doi.org/10.1074/jbc.M109.031997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788871PMC
October 2009

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

Eur J Hum Genet 2009 Sep 4;17(9):1200-3. Epub 2009 Mar 4.

Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2009.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986593PMC
September 2009

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

Eur J Paediatr Neurol 2009 Nov 13;13(6):530-3. Epub 2008 Dec 13.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2008.11.004DOI Listing
November 2009

The significance of isolated elevation of serum aminotransferases in infants and young children.

Arch Dis Child 2007 Dec 25;92(12):1109-12. Epub 2007 Jul 25.

Department of Pediatrics, Bnai Zion Medical Center, Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1136/adc.2007.121194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2066067PMC
December 2007

The liver in congenital disorders of glycosylation: ultrastructural features.

Ultrastruct Pathol 2007 May-Jun;31(3):189-97

Pediatric Research and Electron Microscopy Unit, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1080/01913120701348286DOI Listing
August 2007

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

J Pediatr 2006 May;148(5):671-676

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760501127
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http://dx.doi.org/10.1016/j.jpeds.2005.11.033DOI Listing
May 2006

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol Genet Metab 2006 Aug 21;88(4):359-63. Epub 2006 Apr 21.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.003DOI Listing
August 2006

Myeloid dysplasia in familial 3-methylglutaconic aciduria.

J Pediatr Hematol Oncol 2006 Feb;28(2):69-72

Department of Pediatric Hemato-Oncology, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1097/01.mph.0000199585.98926.55DOI Listing
February 2006

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

J Pediatr Endocrinol Metab 2005 Jun;18(6):617-9

Department of Pediatrics A, HaEmek Medical Center, Afula 18101, Israel.

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http://dx.doi.org/10.1515/jpem.2005.18.6.617DOI Listing
June 2005

Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.

Pediatr Pulmonol 2005 Apr;39(4):374-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ppul.20174DOI Listing
April 2005

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Prenat Diagn 2005 Jan;25(1):60-4

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1002/pd.983DOI Listing
January 2005

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

J Biol Chem 2004 Apr 23;279(17):17792-800. Epub 2004 Jan 23.

Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1074/jbc.M313879200DOI Listing
April 2004