Similar articles for PMID: 30100179

Year	Number of Results
1911	1
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1995	1
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2001	1
2002	1
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2024	0

1

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. Hady-Cohen R, et al. Eur J Paediatr Neurol. 2018 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26. Eur J Paediatr Neurol. 2018. PMID: 30100179

2

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS. Feinstein M, et al. J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27. J Med Genet. 2014. PMID: 24577744

3

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.

Klein A, Schmitt B, Boltshauser E. Klein A, et al. Eur J Paediatr Neurol. 2004;8(6):317-21. doi: 10.1016/j.ejpn.2004.08.006. Eur J Paediatr Neurol. 2004. PMID: 15542387

4

A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.

Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI. Abdulkareem AA, et al. Neurol Sci. 2019 Feb;40(2):299-303. doi: 10.1007/s10072-018-3626-5. Epub 2018 Nov 3. Neurol Sci. 2019. PMID: 30392057

5

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings.

Fujimoto S, Yokochi K, Nakano M, Wada Y. Fujimoto S, et al. Neuropediatrics. 1995 Oct;26(5):270-2. doi: 10.1055/s-2007-979771. Neuropediatrics. 1995. PMID: 8552220

6

Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome).

Somer M, Sainio K. Somer M, et al. Epilepsia. 1993 Jul-Aug;34(4):727-31. doi: 10.1111/j.1528-1157.1993.tb00453.x. Epilepsia. 1993. PMID: 8330584

7

VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.

Hausman-Kedem M, Ben-Shachar S, Menascu S, Geva K, Sagie L, Fattal-Valevski A. Hausman-Kedem M, et al. Neurogenetics. 2019 Oct;20(4):187-195. doi: 10.1007/s10048-019-00586-1. Epub 2019 Aug 16. Neurogenetics. 2019. PMID: 31418091

8

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, Lehesjoki AE. Nevanlinna V, et al. Eur J Med Genet. 2020 Mar;63(3):103766. doi: 10.1016/j.ejmg.2019.103766. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536827

9

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG. Nahorski MS, et al. Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25. Brain. 2016. PMID: 26917597 Free PMC article.

10

PEHO syndrome: the endpoint of different genetic epilepsies.

Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. Chitre M, et al. J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4. J Med Genet. 2018. PMID: 30287594

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