Publications by authors named "Dorota Hoffman-Zacharska"

40Publications

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.

Epilepsy Behav 2020 05 1;106:107036. Epub 2020 Apr 1.

Department of Developmental Neurology, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2020.107036DOI Listing
May 2020

The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?

J Clin Neurosci 2020 Feb 28;72:501-503. Epub 2019 Dec 28.

Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Poland.

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http://dx.doi.org/10.1016/j.jocn.2019.12.018DOI Listing
February 2020

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.

Mov Disord 2019 01 6;34(1):142-144. Epub 2018 Nov 6.

Department of Neurology and Epileptology, Centre of Postgraduate Medical Education, Warsaw, Poland.

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http://doi.wiley.com/10.1002/mds.27536
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http://dx.doi.org/10.1002/mds.27536DOI Listing
January 2019

[Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].

Dev Period Med 2017;21(4):317-327

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

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July 2019

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.

Neurol Neurochir Pol 2017 Jan - Feb;51(1):1-6. Epub 2016 Sep 12.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pjnns.2016.07.013DOI Listing
June 2017

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.

J Appl Genet 2016 Aug 23;57(3):349-55. Epub 2016 Feb 23.

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01 211, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-015-0331-4DOI Listing
August 2016

[Molecular therapeutic strategies for Huntington's disease].

Postepy Biochem 2015 ;61(1):18-24

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September 2015

Genomic instability in the PARK2 locus is associated with Parkinson's disease.

J Appl Genet 2015 Nov 2;56(4):451-461. Epub 2015 Apr 2.

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-015-0282-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617850PMC
November 2015

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Dev Period Med 2015 Oct-Dec;19(4):454-63

Clinic of Neurology of Child and Adolescents, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-307, fax (+48 22) 32-77-130, e-mail:

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http://www.medwiekurozwoj.pl/articles/2015-4-7.pdf
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May 2016

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

Eur J Paediatr Neurol 2015 Jan 7;19(1):78-86. Epub 2014 Aug 7.

"Carol Davila" University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania; Pediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatric Hospital, Şos. Berceni 10-12, Sector 4, Bucharest, Romania. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.07.008DOI Listing
January 2015

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

J Appl Genet 2015 Feb 10;56(1):49-56. Epub 2014 Sep 10.

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-014-0243-8DOI Listing
February 2015

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Neurol Neurochir Pol 2014 29;48(4):254-7. Epub 2014 Jul 29.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pjnns.2014.07.003DOI Listing
October 2014

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300

Department of Medical Genetics, Institute Mother and Child, 01-211 Warsaw, Kasprzaka 17,

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March 2014

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.

Dev Period Med 2014 Oct-Dec;18(4):426-31

Klinika Neurologii Dzieci i Młodzieży, Instytut Matki i Dziecka, ul. M. Kasprzaka 17a, 01-211 Warszawa, Poland, phone: (+48 22) 32-77-307, e-mail:

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May 2015

Expanding the phenotype associated with missense mutations of the ARX gene.

Am J Med Genet A 2013 Jul 8;161A(7):1813-6. Epub 2013 May 8.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.36003DOI Listing
July 2013

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.

Brain Dev 2013 Oct 14;35(9):877-80. Epub 2012 Dec 14.

Department of Medical Genetics, Institute of Mother and Child, Poland.

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http://dx.doi.org/10.1016/j.braindev.2012.10.018DOI Listing
October 2013

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

Neurol Neurochir Pol 2010 Sep-Oct;44(5):511-5

Department of Neurology, Brodno Voivodship Hospital, Medical University of Warsaw.

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http://dx.doi.org/10.1016/s0028-3843(14)60142-0DOI Listing
February 2011

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.

Parkinsonism Relat Disord 2010 Feb 22;16(2):136-8. Epub 2009 Jul 22.

Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.parkreldis.2009.06.010DOI Listing
February 2010

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination.

J Child Neurol 2006 Dec;21(12):1068-73

Department of Pediatrics and Child Neurology, Medical University of Silesia, Katowice, Poland.

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http://dx.doi.org/10.1177/7010.2006.00244DOI Listing
December 2006

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.

J Appl Genet 2005 ;46(2):237-9

Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warszawa, Poland.

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July 2005

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

J Appl Genet 2004 ;45(1):101-5

Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Poland.

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April 2004