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Select item 79740331.

MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease

Laura Farina, Alberto Bizzi, Gaetano Finocchiaro, Davide Pareyson, Angelo Sghirlanzoni, Barbara Bertagnolio, Mario and Savoiardo, and SakkuBai Naidu, Bhim S. Singhal, David A. Wenger

AJNR Am J Neuroradiol. 2000 Sep; 21(8): 1478–1482.

PMCID:: PMC7974033

Abstract Article PDF–189K

Select item 50278882.

Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease

Ayumi Yoshimura, Tetsuya Kibe, Kaori Irahara, Norio Sakai, Kenji Yokochi

Jpn Clin Med. 2016; 7: 23–26. Published online 2016 Sep 18. doi: 10.4137/JCM.S40470

PMCID:: PMC5027888

Abstract Article PDF–1.0M

Select item 109961083.

Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis

Heather M. Terron, Sagar J. Parikh, Samer O. Abdul-Hay, Tomoko Sahara, Dongcheul Kang, Dennis W. Dickson, Paul Saftig, Frank M. LaFerla, Shelley Lane, Malcolm A. Leissring

Alzheimers Res Ther. 2024; 16: 70. Published online 2024 Apr 4. doi: 10.1186/s13195-024-01443-6

PMCID:: PMC10996108

Abstract Article PDF–3.7M

Select item 105795164.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard

J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223

PMCID:: PMC10579516

Abstract Article PDF–669K

Select item 102322485.

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients

Chujun Wu, Mengwen Wang, Xingao Wang, Wei Li, Shaowu Li, Bin Chen, Songtao Niu, Hongfei Tai, Hua Pan, Zaiqiang Zhang

Brain. 2023 Jun; 146(6): 2364–2376. Published online 2022 Nov 16. doi: 10.1093/brain/awac426

PMCID:: PMC10232248

Abstract Article PDF–897K

Select item 100518256.

Impaired Autophagy in Krabbe Disease: The Role of BCL2 and Beclin-1 Phosphorylation

Nadia Papini, Roberta Todisco, Paola Giussani, Michele Dei Cas, Rita Paroni, Chiara Giallanza, Cristina Tringali

Int J Mol Sci. 2023 Mar; 24(6): 5984. Published online 2023 Mar 22. doi: 10.3390/ijms24065984

PMCID:: PMC10051825

Abstract Article PDF–3.5M

Select item 80959757.

Myelin‐Associated Glycoprotein is Altered in a Familial Late‐Onset Orthochromatic Leukodystrophy

Maria Teresa Giordana, Marco Piccinini, Laura Palmucci, Barbara Buccinnà, Cristina Ramondetti, Alfredo Brusco, Tiziana Mongini, Sabrina Leombruni, Giovanna Vaula, Maria Teresa Rinaudo

Brain Pathol. 2005 Apr; 15(2): 116–123. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2005.tb00506.x

PMCID:: PMC8095975

Summary PDF–482K

Select item 75077028.

Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report

Zhou Xia, Yin Wenwen, Yu Xianfeng, Hu Panpan, Zhu Xiaoqun, Sun Zhongwu

Mol Genet Genomic Med. 2020 Sep; 8(9): e1407. Published online 2020 Jul 17. doi: 10.1002/mgg3.1407

PMCID:: PMC7507702

Abstract Article PDF–657K

Select item 75061449.

Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Haille E. Soderholm, Alexander B. Chapin, Pinar Bayrak-Toydemir, Joshua L. Bonkowsky

Pediatr Neurol. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Pediatr Neurol. 2020 Oct; 111: 66–69. Published online 2020 Jun 17. doi: 10.1016/j.pediatrneurol.2020.06.005

PMCID:: PMC7506144

Abstract Article PDF–62K

Select item 656075910.

GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

Shunzhi Zhuang, Lingen Kong, Caiming Li, Likun Chen, Tingting Zhang

BMC Neurol. 2019; 19: 122. Published online 2019 Jun 11. doi: 10.1186/s12883-019-1345-z

PMCID:: PMC6560759

Abstract Article PDF–2.8M

Select item 655004811.

Inhibition of the IGF-1–PI3K–Akt–mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis

Tuba Sural-Fehr, Harinder Singh, Ludovico Cantuti-Catelvetri, Hongling Zhu, Michael S. Marshall, Rima Rebiai, Martin J. Jastrzebski, Maria I. Givogri, Mark M. Rasenick, Ernesto R. Bongarzone

Dis Model Mech. 2019 May 1; 12(5): dmm036590. Published online 2019 May 23. doi: 10.1242/dmm.036590

PMCID:: PMC6550048

Abstract Article

Select item 652012612.

Emerging Links Between Pediatric Lysosomal Storage Diseases and Adult Parkinsonism

Daniel Ysselstein, Joshua M. Shulman, Dimitri Krainc

Mov Disord. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Mov Disord. 2019 May; 34(5): 614–624. Published online 2019 Feb 6. doi: 10.1002/mds.27631

PMCID:: PMC6520126

Abstract Article PDF–492K

Select item 638394313.

Proximal recolonization by self-renewing microglia re-establishes microglial homeostasis in the adult mouse brain

Lihong Zhan, Grietje Krabbe, Fei Du, Ian Jones, Meredith C. Reichert, Maria Telpoukhovskaia, Lay Kodama, Chao Wang, Seo-hyun Cho, Faten Sayed, Yaqiao Li, David Le, Yungui Zhou, Yin Shen, Brian West, Li Gan

PLoS Biol. 2019 Feb; 17(2): e3000134. Published online 2019 Feb 8. doi: 10.1371/journal.pbio.3000134

PMCID:: PMC6383943

Abstract Article PDF–6.8M

Select item 588610114.

Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury

Nicole J. Scott-Hewitt, Christopher J. Folts, Jessica M. Hogestyn, Gavin Piester, Margot Mayer-Pröschel, Mark D. Noble

Hum Mol Genet. 2017 Aug 1; 26(15): 2825–2837. Published online 2017 May 31. doi: 10.1093/hmg/ddx153

PMCID:: PMC5886101

Abstract Article PDF–912K

Select item 582653715.

Analysis of age-related changes in psychosine metabolism in the human brain

Michael S. Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L. DiAntonio, Richard B. van Breemen, Jeffrey H. Kordower, Carlos A. Saavedra-Matiz, Ernesto R. Bongarzone

PLoS One. 2018; 13(2): e0193438. Published online 2018 Feb 26. doi: 10.1371/journal.pone.0193438

PMCID:: PMC5826537

Abstract Article PDF–11M

Select item 581234716.

Biochemical, Cell Biological, Pathological, and Therapeutic Aspects of Krabbe Disease

Je-Seong Won, Avtar K. Singh, Inderjit Singh

J Neurosci Res. Author manuscript; available in PMC 2018 Feb 14.

Published in final edited form as: J Neurosci Res. 2016 Nov; 94(11): 990–1006. doi: 10.1002/jnr.23873

PMCID:: PMC5812347

Abstract Article PDF–828K

Select item 581133917.

Alpha galactosidase A activity in Parkinson’s disease

RN Alcalay, P Wolf, OA Levy, UJ Kang, C Waters, S Fahn, B Ford, SH Kuo, N Vanegas, H Shah, C Liong, S Narayan, MW Pauciulo, WC Nichols, Z Gan-Or, GA Rouleau, WK Chung, P Oliva, J Keutzer, K Marder, XK Zhang

Neurobiol Dis. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Neurobiol Dis. 2018 Apr; 112: 85–90. Published online 2018 Feb 2. doi: 10.1016/j.nbd.2018.01.012

PMCID:: PMC5811339

Abstract Article PDF–156K

Select item 502796818.

Beyond Krabbe’s disease: the potential contribution of GALC deficiency to neuronal vulnerability in late onset synucleinopathies

Michael S. Marshall, Ernesto R. Bongarzone

J Neurosci Res. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: J Neurosci Res. 2016 Nov; 94(11): 1328–1332. doi: 10.1002/jnr.23751

PMCID:: PMC5027968

Abstract Article PDF–467K

Select item 459328319.

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation

José Tomás, João Durães, Lúcia Lacerda, Maria Carmo Macário

BMJ Case Rep. 2015; 2015: bcr2015210625. Published online 2015 Sep 22. doi: 10.1136/bcr-2015-210625

PMCID:: PMC4593283

Abstract Article PDF–337K

Select item 414795320.

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

A. Vanderver, Y. Hathout, J. Maletkovic, E.S. Gordon, M. Mintz, M. Timmons, E.P. Hoffman, L. Horzinski, F. Niel, A. Fogli, O. Boespflug-Tanguy, R. Schiffmann

Neurology. Author manuscript; available in PMC 2014 Aug 28.

Published in final edited form as: Neurology. 2008 Jun 3; 70(23): 2226–2232. doi: 10.1212/01.wnl.0000313857.54398.0e

PMCID:: PMC4147953

Abstract Article PDF–1.5M

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