Mierzewska H - Search Results

1

Adenylosuccinate lyase deficiency: the first identified polish patient.

Jurkiewicz E, Mierzewska H, Kuśmierska K. Jurkiewicz E, et al. Among authors: mierzewska h. Brain Dev. 2007 Oct;29(9):600-2. doi: 10.1016/j.braindev.2007.03.005. Epub 2007 May 7. Brain Dev. 2007. PMID: 17485188

2

MRI of a family with leukoencephalypathy with vanishing white matter.

Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, Pakua-Kościesza I, Kmieć T, Scheper G, van der Knaap MS, Pronicka E. Jurkiewicz E, et al. Among authors: mierzewska h. Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24. Pediatr Radiol. 2005. PMID: 15912409

3

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K. Mierzewska H, et al. Folia Neuropathol. 2006;44(2):144-8. Folia Neuropathol. 2006. PMID: 16823698 Free article.

4

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

Kmieć T, Bilska M, Mierzewska H, Jurkiewicz E, Jóźwiak S. Kmieć T, et al. Among authors: mierzewska h. Neurol Neurochir Pol. 2007 May-Jun;41(3):267-71. Neurol Neurochir Pol. 2007. PMID: 17629821 Polish.

5

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J. Mierzewska H, et al. Folia Neuropathol. 2008;46(1):81-91. Folia Neuropathol. 2008. PMID: 18368630 Free article.

6

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Bekiesinska-Figatowska M, Mierzewska H, Kuczynska-Zardzewialy A, Szczepanik E, Obersztyn E. Bekiesinska-Figatowska M, et al. Among authors: mierzewska h. Brain Dev. 2010 Aug;32(7):574-8. doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22. Brain Dev. 2010. PMID: 19700253

7

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T. Mierzewska H, et al. Folia Neuropathol. 2009;47(4):314-20. Folia Neuropathol. 2009. PMID: 20054783 Free article.

8

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E. Mierzewska H, et al. Brain Dev. 2011 Oct;33(9):713-7. doi: 10.1016/j.braindev.2010.12.005. Epub 2011 Jan 28. Brain Dev. 2011. PMID: 21277128

9

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P. Derwińska K, et al. Among authors: mierzewska h. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22223473

10

Basal ganglia lesions in children and adults.

Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E. Bekiesinska-Figatowska M, et al. Among authors: mierzewska h. Eur J Radiol. 2013 May;82(5):837-49. doi: 10.1016/j.ejrad.2012.12.006. Epub 2013 Jan 10. Eur J Radiol. 2013. PMID: 23313708 Review.

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