Similar articles for PMID: 23239615

Year	Number of Results
1997	1
1999	3
2000	5
2001	4
2002	2
2003	4
2004	3
2005	3
2006	3
2007	8
2008	8
2009	6
2010	6
2011	6
2012	7
2013	11
2014	6
2015	9
2016	8
2017	5
2018	5
2019	8
2020	8
2021	7
2022	3
2023	5
2024	0

1

A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.

Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K. Kimura-Ohba S, et al. Am J Med Genet A. 2013 Jan;161A(1):203-7. doi: 10.1002/ajmg.a.35686. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239615

2

Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.

Shiohama T, Nakashima M, Ikehara H, Kato M, Saitsu H. Shiohama T, et al. Congenit Anom (Kyoto). 2020 May;60(3):94-96. doi: 10.1111/cga.12351. Epub 2019 Jul 29. Congenit Anom (Kyoto). 2020. PMID: 31328296 No abstract available.

3

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D. Plecko B, et al. Neuropediatrics. 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276. Neuropediatrics. 2003. PMID: 12910435

4

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.

5

[Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].

Blanco-Barca MO, Eirís-Puñal J, Soler-Regal C, Castro-Gago M. Blanco-Barca MO, et al. Rev Neurol. 2003 Sep 1-15;37(5):436-8. Rev Neurol. 2003. PMID: 14533091 Free article. Spanish.

6

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

Seeman P, Paderova K, Benes V Jr, Sistermans EA. Seeman P, et al. Int J Mol Med. 2002 Feb;9(2):125-9. Int J Mol Med. 2002. PMID: 11786921

7

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

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J. Hoffman-Zacharska D, et al. Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300. Med Wieku Rozwoj. 2013. PMID: 24519770

8

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.

9

MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication.

Takanashi J, Sugita K, Tanabe Y, Nagasawa K, Inoue K, Osaka H, Kohno Y. Takanashi J, et al. AJNR Am J Neuroradiol. 1999 Nov-Dec;20(10):1822-8. AJNR Am J Neuroradiol. 1999. PMID: 10588103 Free PMC article.

10

Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy.

Tochigi Y, Takamatsu Y, Nakane J, Nakai R, Katayama K, Suzuki H. Tochigi Y, et al. Int J Mol Sci. 2019 Jul 23;20(14):3596. doi: 10.3390/ijms20143596. Int J Mol Sci. 2019. PMID: 31340538 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

122 results

Results by year