Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease by Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski

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Leukodystrophy-like presentation in a child: A case of hereditary spastic paraparesis-35 by Kiruthiga Sugumar, Aakash Chandran Chidambaram, Jaikumar Govindaswamy Ramamoorthy, Tamil Selvan

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Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy by Andrea Atzmon, Melisa Herrero, Reut Sharet-Eshed, Yocheved Gilad, Hanoch Senderowitz, Orna Elroy-Stein, Orna Elroy-Stein

Subjects: “…leukodystrophy…”
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Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report by Shailendra Katwal, MD, Sundar Suwal, MD, Suman Lamichhane, MD, Amrit Bhusal, MBBS, Aastha Ghimire, MBBS

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Clinical, genetic, and molecular characteristics in a central‐southern Chinese cohort of genetic leukodystrophies by Yingjie Li, Jiaming Xu, Yan Xu, Chuanzhou Li, Yan Wu, Zhijun Liu

“…Abstract Objective Leukodystrophies are a diverse group of rare inherited disorders that affect the white matter of the central nervous system with a wide phenotypic spectrum. …”
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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family by Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma

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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation by Naoto Matsumoto, Natsumi Watanabe, Noriko Iibe, Yuriko Tatsumi, Kohei Hattori, Yu Takeuchi, Hiroaki Oizumi, Katsuya Ohbuchi, Tomohiro Torii, Yuki Miyamoto, Junji Yamauchi

“…Keywords: Hypomyelinating leukodystrophy, Arginyl-tRNA synthetase, Lysosome, Oligodendrocyte, Differentiation…”
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Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study by Ping Wang, Xiaonan Du, Quanli Shen, Wenjin Jiang, Chen Shen, Hongsheng Wang, Shuizhen Zhou, Yi Wang, Xiaowen Qian, Xiaowen Zhai

Subjects: “…leukodystrophy…”
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Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism by Liyuan Guo, Bo Jin, Yidan Zhang, Jing Wang

“…Abstract Background Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal disorder caused by mutations in ARSA. …”
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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions by Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova

Subjects: “…adult-onset leukodystrophy…”
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Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi by Yuki Miyamoto, Kohei Hattori, Junji Yamauchi

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Functional Study of <i>TMEM163</i> Gene Variants Associated with Hypomyelination Leukodystrophy by Huifang Yan, Shuyan Yang, Yiming Hou, Saima Ali, Adrian Escobar, Kai Gao, Ruoyu Duan, Thomas Kubisiak, Junyu Wang, Yu Zhang, Jiangxi Xiao, Yuwu Jiang, Ting Zhang, Ye Wu, Margit Burmeister, Qiang Wang, Math P. Cuajungco, Jingmin Wang

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Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. by Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D Duncan, Federico Zara, Hauke B Werner, Michael P Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti

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The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland by Sophie Thomas, Alexandra Morrison, Georgina Morton, Pat Roberts, Vivienne Clark, Jackie Imrie

Subjects: “…Metachromatic leukodystrophy (MLD)…”
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Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions by Sameh K. Wasseff, Steven S. Scherer

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Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy by Dar-Shong Lin, Yu-Wen Huang, Tsung-Han Lee, Lung Chang, Zon-Darr Huang, Tsu-Yen Wu, Tuan-Jen Wang, Che-Sheng Ho

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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability by Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi

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Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy by Vanessa L. Hull, Yan Wang, Jennifer McDonough, Meina Zhu, Travis Burns, Najmah Al Ramel, Ali Dehghani, Fuzheng Guo, David Pleasure

“…Abstract Canavan disease is a leukodystrophy caused by ASPA mutations that diminish oligodendroglial aspartoacylase activity, and is characterized by markedly elevated brain concentrations of the aspartoacylase substrate N‐acetyl‐l‐aspartate (NAA) and by astroglial and intramyelinic vacuolation. …”
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THE LEUKODYSTROPHY SPECTRUM IN PEDIATRIC EGYPTIANS POPULATIONS, IDENTIFICATIONS OF CAUSATIVE GENES, RADIOLOGICAL AND CLINICAL FINDINGS by Hasnaa Elbendary

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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) by D. Hettiarachchi, V. H. W. Dissanayake

Subjects: “…Metachromatic leukodystrophy…”
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