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Select item 34374691.

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations

Ladislav Kuchař, Jana Ledvinová, Martin Hřebíček, Helena Myšková, Lenka Dvořáková, Linda Berná, Petr Chrastina, Befekadu Asfaw, Milan Elleder, Margret Petermöller, Heidi Mayrhofer, Martin Staudt, Ingeborg Krägeloh-Mann, Barbara C Paton, Klaus Harzer

Am J Med Genet A. 2009 Apr; 149A(4): 613–621. Published online 2009 Mar 6. doi: 10.1002/ajmg.a.32712

PMCID:: PMC3437469

Abstract Article PDF–298K

Select item 35190682.

Infantile Alexander disease: A rare leukodystrophy

K. Jagadish Kumar, H. Suryaprakash, V. G. Manjunath, S. Harsha

J Pediatr Neurosci. 2012 May-Aug; 7(2): 117–119. doi: 10.4103/1817-1745.102573

PMCID:: PMC3519068

Abstract Article

Select item 35098363.

Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?

G. Deib, A. Poretti, A. Meoded, K. J. Cohen, G. V. Raymond, M. Abromowitch, T. A. G. M. Huisman

JIMD Rep. 2012; 2: 29–32. Published online 2011 Sep 6. doi: 10.1007/8904_2011_39

PMCID:: PMC3509836

Abstract Article PDF–115K

Select item 81269674.

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging

Tongxia Zhang, Chuanzhu Yan, Yiming Liu, Lili Cao, Kunqian Ji, Duoling Li, Lingyi Chi, Yuying Zhao

Neuropsychiatr Dis Treat. 2021; 17: 1451–1458. Published online 2021 May 12. doi: 10.2147/NDT.S296424

PMCID:: PMC8126967

Abstract Article PDF–406K

Select item 35007705.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

J Med Genet. 2012 Sep; 49(9): 569–577. doi: 10.1136/jmedgenet-2012-101146

PMCID:: PMC3500770

Abstract Article PDF–708K

Select item 34822656.

High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice

Brittni A. Scruggs, Annie C. Bowles, Xiujuan Zhang, Julie A. Semon, Evan J. Kyzar, Leann Myers, Allan V. Kalueff, Bruce A. Bunnell

Behav Brain Res. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Behav Brain Res. 2013 Jan 1; 236(1): 35–47. Published online 2012 Aug 20. doi: 10.1016/j.bbr.2012.08.020

PMCID:: PMC3482265

Abstract Article PDF–6.8M

Select item 81339557.

MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

A. Melberg, L. Hallberg, H. Kalimo, R. Raininko

AJNR Am J Neuroradiol. 2006 Apr; 27(4): 904–911.

PMCID:: PMC8133955

Abstract Article PDF–730K

Select item 81555878.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki

Front Pediatr. 2021; 9: 633385. Published online 2021 May 13. doi: 10.3389/fped.2021.633385

PMCID:: PMC8155587

Abstract Article PDF–1.5M

Select item 81631229.

A hypomyelinating leukodystrophy in German Shepherd dogs

Pia R. Quitt, Andreas Brühschwein, Kaspar Matiasek, Franziska Wielaender, Veera Karkamo, Marjo K. Hytönen, Andrea Meyer‐Lindenberg, Berett Dengler, Tosso Leeb, Hannes Lohi, Andrea Fischer

J Vet Intern Med. 2021 May-Jun; 35(3): 1455–1465. Published online 2021 Mar 18. doi: 10.1111/jvim.16085

PMCID:: PMC8163122

Abstract Article PDF–3.2M

Select item 346669610.

The potential of stem cells for the treatment of brain tumors and globoid cell leukodystrophy

Patrizia Tunici, Serena Pellegatta, Gaetano Finocchiaro

Cytotechnology. 2003 Mar; 41(2-3): 93–101. doi: 10.1023/A:1024818621377

PMCID:: PMC3466696

Summary PDF–101K

Select item 442495211.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, Len A. Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

Hum Mol Genet. 2015 Jun 1; 24(11): 3143–3154. Published online 2015 Feb 20. doi: 10.1093/hmg/ddv065

PMCID:: PMC4424952

Abstract Article PDF–621K

Select item 817580212.

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice

Emilie Audouard, Valentin Oger, Béatrix Meha, Nathalie Cartier, Caroline Sevin, Françoise Piguet

Front Mol Neurosci. 2021; 14: 677895. Published online 2021 May 21. doi: 10.3389/fnmol.2021.677895

PMCID:: PMC8175802

Abstract Article PDF–3.9M

Select item 819059913.

Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes

Elisabeth Mangiameli, Anna Cecchele, Francesco Morena, Francesca Sanvito, Vittoria Matafora, Angela Cattaneo, Lucrezia della Volpe, Daniela Gnani, Marianna Paulis, Lucia Susani, Sabata Martino, Raffaella Di Micco, Angela Bachi, Angela Gritti

Stem Cell Reports. 2021 Jun 8; 16(6): 1478–1495. Published online 2021 May 13. doi: 10.1016/j.stemcr.2021.04.011

PMCID:: PMC8190599

Abstract Article PDF–6.1M

Select item 354901814.

Determinants of Health Care Utilization in a Population-Based Leukodystrophy Cohort

Clint Nelson, Michael B. Mundorff, E. Kent Korgenski, Cameron J Brimley, Rajendu Srivastava, FRCP (C), Joshua L. Bonkowsky

J Pediatr. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: J Pediatr. 2013 Mar; 162(3): 624–628.e1. Published online 2012 Oct 13. doi: 10.1016/j.jpeds.2012.08.046

PMCID:: PMC3549018

Abstract Article PDF–61K

Select item 599799415.

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Giacomo Frati, Marco Luciani, Vasco Meneghini, Silvia De Cicco, Marcus Ståhlman, Maria Blomqvist, Serena Grossi, Mirella Filocamo, Francesco Morena, Andrea Menegon, Sabata Martino, Angela Gritti

Cell Death Dis. 2018 Jun; 9(6): 698. Published online 2018 Jun 13. doi: 10.1038/s41419-018-0737-0

PMCID:: PMC5997994

Abstract Article PDF–5.2M

Select item 341389816.

Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice

Françoise Piguet, Dolan Sondhi, Monique Piraud, Françoise Fouquet, Neil R. Hackett, Ornella Ahouansou, Marie-Thérèse Vanier, Ivan Bieche, Patrick Aubourg, Ronald G. Crystal, Nathalie Cartier, Caroline Sevin

Hum Gene Ther. 2012 Aug; 23(8): 903–914. Published online 2012 May 15. doi: 10.1089/hum.2012.015

PMCID:: PMC3413898

Abstract Article PDF–790K

Select item 823487717.

Formulation Improvements in the Applications of Surfactant–Oil–Water Systems Using the HLD_N Approach with Extended Surfactant Structure

Ana M. Forgiarini, Ronald Marquez, Jean-Louis Salager

Molecules. 2021 Jun; 26(12): 3771. Published online 2021 Jun 21. doi: 10.3390/molecules26123771

PMCID:: PMC8234877

Abstract Article PDF–3.4M

Select item 823656118.

Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy

Jonathan B. Rosenberg, Alvin Chen, Bishnu P. De, Jonathan P. Dyke, Douglas J. Ballon, Sebastien Monette, Rodolfo J. Ricart Arbona, Stephen M. Kaminsky, Ronald G. Crystal, Dolan Sondhi

Hum Gene Ther. June 2021; 32(11-12): 563–580. Published online 2021 Jun 16. doi: 10.1089/hum.2020.269

PMCID:: PMC8236561

Abstract Article PDF–2.1M

Select item 598528319.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Gutierrez Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desiree E.C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aida Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I. Wolf, Geneviève Bernard

Am J Hum Genet. 2018 Apr 5; 102(4): 676–684. Published online 2018 Mar 22. doi: 10.1016/j.ajhg.2018.02.011

PMCID:: PMC5985283

Abstract Article PDF–1.4M

Select item 443570620.

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy

Christine í Dali, Norman W Barton, Mohamed H Farah, Mihai Moldovan, Jan-Eric Månsson, Nitin Nair, Morten Dunø, Lotte Risom, Hongmei Cao, Luying Pan, Marcia Sellos-Moura, Andrea M Corse, Christian Krarup

Ann Clin Transl Neurol. 2015 May; 2(5): 518–533. Published online 2015 Mar 27. doi: 10.1002/acn3.193

PMCID:: PMC4435706

Abstract Article PDF–1.7M

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