Lubov Blumkin

Lubov Blumkin

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Lubov Blumkin

Lubov Blumkin

Publications by authors named "Lubov Blumkin"

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Brain white matter abnormalities associated with copy number variants.

Am J Med Genet A 2020 Jan 17;182(1):93-103. Epub 2019 Oct 17.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61389DOI Listing
January 2020

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

Eur J Med Genet 2019 Nov 2:103801. Epub 2019 Nov 2.

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103801DOI Listing
November 2019

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Metab Brain Dis 2019 08 10;34(4):1043-1048. Epub 2019 Apr 10.

Metabolic Neurogenetic Service, Pediatric Neurology Unit, Wolfson Medical Center, Halochamim 62, Holon, Israel.

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http://dx.doi.org/10.1007/s11011-019-00415-2DOI Listing
August 2019

Familial Intracranial Hypertension in 2 Brothers With Mutation: Expansion of the Phenotypic Spectrum.

J Child Neurol 2019 08 2;34(9):506-510. Epub 2019 May 2.

1 Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/0883073819842970DOI Listing
August 2019

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Am J Med Genet A 2019 Aug 5;179(8):1575-1579. Epub 2019 Jun 5.

Pediatric Neurology Unit, Holon, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61196DOI Listing
August 2019

Paroxysmal torticollis of infancy: a benign phenomenon?

Authors:
Lubov Blumkin

Dev Med Child Neurol 2018 12 2;60(12):1196-1197. Epub 2018 Jul 2.

Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel Aviv University, Holon, Israel.

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http://doi.wiley.com/10.1111/dmcn.13967
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http://dx.doi.org/10.1111/dmcn.13967DOI Listing
December 2018

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders.

J Child Neurol 2018 08 16;33(9):565-571. Epub 2018 May 16.

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

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http://dx.doi.org/10.1177/0883073818773028DOI Listing
August 2018

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.

Neuropediatrics 2018 08 25;49(4):246-255. Epub 2018 May 25.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1055/s-0038-1645884DOI Listing
August 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

Eur J Paediatr Neurol 2016 May 2;20(3):412-7. Epub 2016 Mar 2.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.02.012DOI Listing
May 2016

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Eur J Paediatr Neurol 2015 Nov 9;19(6):733-6. Epub 2015 Jul 9.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.06.006DOI Listing
November 2015

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

Eur J Paediatr Neurol 2015 Jul 3;19(4):472-6. Epub 2015 Mar 3.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Toldot Genetics Ltd., Tel Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.02.005DOI Listing
July 2015

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Eur J Paediatr Neurol 2015 May 8;19(3):292-7. Epub 2015 Jan 8.

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

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http://dx.doi.org/10.1016/j.ejpn.2014.12.018DOI Listing
May 2015

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

J Genet Genomics 2015 Feb 10;42(2):79-81. Epub 2015 Jan 10.

Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2014.12.004DOI Listing
February 2015

Costeff syndrome: clinical features and natural history.

J Neurol 2014 Dec 9;261(12):2275-82. Epub 2014 Sep 9.

Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel,

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http://dx.doi.org/10.1007/s00415-014-7481-xDOI Listing
December 2014

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

Eur J Paediatr Neurol 2014 Sep 18;18(5):567-71. Epub 2014 Apr 18.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.04.008DOI Listing
September 2014

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Eur J Paediatr Neurol 2014 Jul 8;18(4):495-501. Epub 2014 Apr 8.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.009DOI Listing
July 2014

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

Eur J Paediatr Neurol 2012 Jul 14;16(4):356-60. Epub 2011 Dec 14.

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

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http://dx.doi.org/10.1016/j.ejpn.2011.11.004DOI Listing
July 2012

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

Neurogenetics 2012 Feb;13(1):73-6

Department of Medical Genetics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-012-0314-0DOI Listing
February 2012

Acquired ataxias, infectious and para-infectious.

Handb Clin Neurol 2012 ;103:137-46

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/B978044451892700
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http://dx.doi.org/10.1016/B978-0-444-51892-7.00007-3DOI Listing
December 2011

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

J Neurol Sci 2011 Jun 25;305(1-2):67-70. Epub 2011 Mar 25.

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.jns.2011.03.011DOI Listing
June 2011

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

Eur J Paediatr Neurol 2010 Sep 13;14(5):456-9. Epub 2010 Apr 13.

Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2010.03.002DOI Listing
September 2010

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

J Child Neurol 2010 Jul 21;25(7):892-7. Epub 2010 Jan 21.

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

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http://dx.doi.org/10.1177/0883073809351316DOI Listing
July 2010

Neurologic involvement in a child with systemic capillary leak syndrome.

Pediatrics 2010 Mar 1;125(3):e687-92. Epub 2010 Feb 1.

Wolfson Medical Center, Pediatric Neurology Unit, Holon 58100, Israel.

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http://dx.doi.org/10.1542/peds.2009-1691DOI Listing
March 2010

[Opsoclonus myoclonus ataxia syndrome in Israel].

Harefuah 2010 Jan;149(1):24-8, 63

Opsoclonus Myoclonus Ataxia Clinic, Pediatric Movement Disorder Service, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv.

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January 2010

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

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Eur J Paediatr Neurol 2008 Mar 30;12(2):97-101. Epub 2007 Jul 30.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2007.06.005DOI Listing
March 2008

Clinical correlates of occipital intermittent rhythmic delta activity (OIRDA) in children.

Epilepsia 2007 Feb;48(2):330-4

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

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http://dx.doi.org/10.1111/j.1528-1167.2006.00937.xDOI Listing
February 2007

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development.

Mov Disord 2007 Jan;22(2):226-30

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

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http://doi.wiley.com/10.1002/mds.21277
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http://dx.doi.org/10.1002/mds.21277DOI Listing
January 2007

Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures.

J Child Neurol 2006 Feb;21(2):145-8

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/08830738060210021701DOI Listing
February 2006

Pediatric refractory partial status epilepticus responsive to topiramate.

J Child Neurol 2005 Mar;20(3):239-41

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/08830738050200031701DOI Listing
March 2005