Yosovich K - Search Results

1

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: yosovich k. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.

2

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

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. Blumkin L, et al. Among authors: yosovich k. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25. J Neurol Sci. 2011. PMID: 21440262

3

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

Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D. Blumkin L, et al. Among authors: yosovich k. Neuropediatrics. 2018 Aug;49(4):246-255. doi: 10.1055/s-0038-1645884. Epub 2018 May 25. Neuropediatrics. 2018. PMID: 29801190

4

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca²⁺-Dependent Cyclic GMP Synthesis.

Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW. Wimberg H, et al. Among authors: yosovich k. Front Mol Neurosci. 2018 Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30319355 Free PMC article.

5

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Birnbaum R, Yosha-Orpaz N, Yanoov-Sharav M, Kidron D, Gur H, Yosovich K, Lerman-Sagie T, Malinger G, Lev D. Birnbaum R, et al. Among authors: yosovich k. Am J Med Genet A. 2019 Jan;179(1):78-84. doi: 10.1002/ajmg.a.6. Epub 2018 Dec 4. Am J Med Genet A. 2019. PMID: 30513135

6

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

Zerem A, Yosovich K, Rappaport YC, Libzon S, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T. Zerem A, et al. Among authors: yosovich k. Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. Metab Brain Dis. 2019. PMID: 30972688

7

Brain white matter abnormalities associated with copy number variants.

Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A. Vigdorovich N, et al. Among authors: yosovich k. Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17. Am J Med Genet A. 2020. PMID: 31622028

8

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

Gafner M, Michelson M, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. Gafner M, et al. Among authors: yosovich k. Eur J Med Genet. 2020 Apr;63(4):103801. doi: 10.1016/j.ejmg.2019.103801. Epub 2019 Nov 2. Eur J Med Genet. 2020. PMID: 31689548

9

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Hartman TG, Yosovich K, Michaeli HG, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T, Zerem A. Hartman TG, et al. Among authors: yosovich k. Neurogenetics. 2020 Oct;21(4):243-249. doi: 10.1007/s10048-020-00611-8. Epub 2020 May 18. Neurogenetics. 2020. PMID: 32424628

10

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.

Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L. Andelman-Gur MM, et al. Among authors: yosovich k. Eur J Med Genet. 2020 Dec;63(12):104061. doi: 10.1016/j.ejmg.2020.104061. Epub 2020 Sep 3. Eur J Med Genet. 2020. PMID: 32890691

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