DOI: 10.1016/s0387-7604(03)00006-8. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

10.1016/s0387-7604(03)00006-8

Crossref journal-article

Elsevier BV

Brain and Development (78)

Bibliography

Saijo, H., Nakayama, H., Ezoe, T., Araki, K., Sone, S., Hamaguchi, H., Suzuki, H., Shiroma, N., Kanazawa, N., Tsujino, S., Hirayama, Y., & Arima, M. (2003). A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain and Development, 25(5), 362â366.

Authors 12

Harumi Saijo (first)
Harumi Nakayama (additional)
Takanori Ezoe (additional)
Katsuhito Araki (additional)
Sui Sone (additional)
Hiroshi Hamaguchi (additional)
Hisaharu Suzuki (additional)
Naohide Shiroma (additional)
Naomi Kanazawa (additional)
Seiichi Tsujino (additional)
Yoshito Hirayama (additional)
Masataka Arima (additional)

References 10 Referenced 32

10.1002/ana.410370308 / Ann Neurol / Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children by van der Knaap (1995)
10.1086/319519 / Am J Hum Genet / Mutations of MLC1(KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts by Leegwater (2001)
10.1016/S0387-7604(98)00002-3 / Brain Dev / Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases by Topcu (1998)
10.1177/088307380101600205 / J Child Neurol / Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients by Ben-Zeev (2001)
{'key': '10.1016/S0387-7604(03)00006-8_BIB5', 'first-page': '173', 'volume': '166', 'author': 'Barkovich', 'year': '1988', 'journal-title': 'Normal maturation of the neonatal and infant brain: MR imaging at 1.5T. Radiology'} / Normal maturation of the neonatal and infant brain: MR imaging at 1.5T. Radiology by Barkovich (1988)
{'issue': '22', 'key': '10.1016/S0387-7604(03)00006-8_BIB6', 'first-page': '541', 'article-title': 'Alexander disease: diagnosis with MR imaging', 'author': 'van der Knaap', 'year': '2001', 'journal-title': 'Am J Neuroradiol'} / Am J Neuroradiol / Alexander disease: diagnosis with MR imaging by van der Knaap (2001)
10.1016/0387-7604(93)90123-P / Brain Dev / A case of Canavan disease: the first biochemically proven case in a Japanese girl by Hamaguchi (1993)
10.1016/S0387-7604(98)00024-2 / Brain Dev / Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy by Koeda (1998)
10.1016/S0022-510X(99)00073-8 / J Neurol Sci / Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements by Takanashi (1999)
10.1007/s004010050510 / Acta Neuropathol / Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course by van der Knaap (1996)

Dates

Type	When
Created	22 years, 4 months ago (April 7, 2003, 8:22 a.m.)
Deposited	6 years, 5 months ago (March 23, 2019, 4:50 p.m.)
Indexed	1 month, 1 week ago (July 19, 2025, 11:34 p.m.)
Issued	22 years ago (Aug. 1, 2003)
Published	22 years ago (Aug. 1, 2003)
Published Print	22 years ago (Aug. 1, 2003)

Funders 0

None

BibTeX

@article{Saijo_2003, title={A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study}, volume={25}, ISSN={0387-7604}, url={http://dx.doi.org/10.1016/s0387-7604(03)00006-8}, DOI={10.1016/s0387-7604(03)00006-8}, number={5}, journal={Brain and Development}, publisher={Elsevier BV}, author={Saijo, Harumi and Nakayama, Harumi and Ezoe, Takanori and Araki, Katsuhito and Sone, Sui and Hamaguchi, Hiroshi and Suzuki, Hisaharu and Shiroma, Naohide and Kanazawa, Naomi and Tsujino, Seiichi and Hirayama, Yoshito and Arima, Masataka}, year={2003}, month=aug, pages={362–366} }

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