PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.220082022202e24A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorderSajad Rafiee Komachali, Mozhgan Sheikholeslami, Mansoor Salehihttp://genominfo.org/upload/pdf/gi-22008.pdf, http://genominfo.org/journal/view.php?doi=10.5808/gi.22008, http://genominfo.org/upload/pdf/gi-22008.pdf
Molecular Genetics and Metabolism Reports10.1016/j.ymgmr.2017.03.0032017116-7Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutationYuki Miyamoto, Kazuko Kawahara, Tomohiro Torii, Junji Yamauchihttps://api.elsevier.com/content/article/PII:S2214426917300290?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2214426917300290?httpAccept=text/plain
neurogenetics10.1007/s10048-017-0515-72017183135-139Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN geneMaher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleghttp://link.springer.com/article/10.1007/s10048-017-0515-7/fulltext.html, http://link.springer.com/content/pdf/10.1007/s10048-017-0515-7.pdf, http://link.springer.com/content/pdf/10.1007/s10048-017-0515-7.pdf
Human Genome Variation10.1038/hgv.2017.35201741A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescenceYongping Lu, Yumiko Ondo, Keiko Shimojima, Hitoshi Osaka, Toshiyuki Yamamotohttp://www.nature.com/articles/hgv201735.pdf, http://www.nature.com/articles/hgv201735, http://www.nature.com/articles/hgv201735, http://www.nature.com/articles/hgv201735.pdf
10.21203/rs.2.10640/v12019Novel mutations of POLR3A Gene caused hypomyelinating leukodystrophy type 7 (HLD7) in a Chinese family: a Case ReportShuiyan Wu, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou, Haitao Lvhttps://www.researchsquare.com/article/rs-1603/v1, https://www.researchsquare.com/article/rs-1603/v1.html
Journal of Neurology10.1007/s00415-014-7429-12014261101929-1938A new mutation in GJC2 associated with subclinical leukodystrophyCharles K. Abrams, Steven S. Scherer, Rafael Flores-Obando, Mona M. Freidin, Sarah Wong, Eleonora Lamantea, Laura Farina, Vidmer Scaioli, Davide Pareyson, Ettore Salsanohttp://link.springer.com/content/pdf/10.1007/s00415-014-7429-1.pdf, http://link.springer.com/article/10.1007/s00415-014-7429-1/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00415-014-7429-1
Neurology International10.3390/neurolint14010002202114111-33Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by IbuprofenSui Sawaguchi, Kenji Tago, Hiroaki Oizumi, Katsuya Ohbuchi, Masahiro Yamamoto, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchihttps://www.mdpi.com/2035-8377/14/1/2/pdf
Neurology International10.3390/neurolint140100182022141212-244Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by IbuprofenSui Sawaguchi, Rimi Suzuki, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Masahiro Yamamoto, Yuki Miyamoto, Junji Yamauchihttps://www.mdpi.com/2035-8377/14/1/18/pdf
Biomedicines10.3390/biomedicines1007170920221071709Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic ParaplegiaGuy Khalaf, Claudia Mattern, Mélina Begou, Odile Boespflug-Tanguy, Charbel Massaad, Liliane Massaad-Massadehttps://www.mdpi.com/2227-9059/10/7/1709/pdf
Human Mutation10.1002/1098-1004(200010)16:4<375::aid-humu21>3.0.co;2-c2000164375-376Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutationLaura Gort, M. Josep Coll, Amparo Chab�shttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F1098-1004(200010)16:4%3C375::AID-HUMU21%3E3.0.CO;2-C, https://onlinelibrary.wiley.com/doi/full/10.1002/1098-1004(200010)16:4%3C375::AID-HUMU21%3E3.0.CO;2-C