Literature DB >> 24283893

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

S M Wakil1, D M Monies, K Ramzan, S Hagos, L Bastaki, B F Meyer, S Bohlega.   

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Year:  2013        PMID: 24283893     DOI: 10.1111/cge.12312

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  17 in total

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Review 2.  Human genetic disorders of sphingolipid biosynthesis.

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3.  Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.

Authors:  Kazuhiro Aoki; Adam D Heaps; Kevin A Strauss; Michael Tiemeyer
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4.  Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

Authors:  Julian Emanuel Alecu; Yuhsuke Ohmi; Robiul H Bhuiyan; Kei-Ichiro Inamori; Takahiro Nitta; Afshin Saffari; Hellen Jumo; Marvin Ziegler; Claudio Melo de Gusmao; Nutan Sharma; Shiho Ohno; Noriyoshi Manabe; Yoshiki Yamaguchi; Mariko Kambe; Keiko Furukawa; Mustafa Sahin; Jin-Ichi Inokuchi; Koichi Furakawa; Darius Ebrahimi-Fakhari
Journal:  Am J Med Genet A       Date:  2022-07-01       Impact factor: 2.578

5.  Gangliosides in Neurodegenerative Diseases.

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6.  Functional Impairment of the Nervous System with Glycolipid Deficiencies.

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Review 7.  Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).

Authors:  Bobby G Ng; Hudson H Freeze
Journal:  J Inherit Metab Dis       Date:  2014-08-28       Impact factor: 4.982

8.  The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

Authors:  Chen Wang; Yun-Jian Zhang; Ci-Hao Xu; Zhi-Jun Liu; Yan Wu
Journal:  Mol Genet Genomic Med       Date:  2021-02-27       Impact factor: 2.183

9.  Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Authors:  Rubina Dad; Susan Walker; Stephen W Scherer; Muhammad Jawad Hassan; Mohammad Domaia Alghamdi; Berge A Minassian; Reem A Alkhater
Journal:  Neurol Genet       Date:  2017-05-23

Review 10.  Elucidation of the enigma of glycosphingolipids in the regulation of inflammation and degeneration - Great progress over the last 70 years.

Authors:  Koichi Furukawa; Yuhsuke Ohmi; Yuji Kondo; Robiul H Bhuiyan; Orie Tajima; Pu Zhang; Yuki Ohkawa; Keiko Furukawa
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