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There are 20790 results for: content related to: Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G[RIGHTWARDS ARROW]a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family

  1. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients

    Human Mutation

    Volume 14, Issue 3, 1999, Pages: 240–248, Laura Gort, M. Josep Coll and Amparo Chabás

    Version of Record online : 2 SEP 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

  2. Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 95–97, Barry Eng, Tim Heshka, Mark A. Tarnopolsky, Lisa M. Nakamura, Małgorzata J.M. Nowaczyk and John S. Waye

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30085

  3. You have free access to this content
    Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 16–27, Martina Cesani, Laura Lorioli, Serena Grossi, Giulia Amico, Francesca Fumagalli, Ivana Spiga, Mirella Filocamo and Alessandra Biffi

    Version of Record online : 4 NOV 2015, DOI: 10.1002/humu.22919

  4. You have free access to this content
    Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: E936–E945, Martina Cesani, Alessia Capotondo, Tiziana Plati, Lucia Sergi Sergi, Francesca Fumagalli, Maria Grazia Roncarolo, Luigi Naldini, Giancarlo Comi, Maria Sessa and Alessandra Biffi

    Version of Record online : 15 JUL 2009, DOI: 10.1002/humu.21093

  5. Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity

    Human Mutation

    Volume 13, Issue 1, 1999, Pages: 61–68, Johannes Berger, Marion Gmach, Udo Mayr, Brunhilde Molzer and Hanno Bernheime

    Version of Record online : 6 APR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:1<61::AID-HUMU7>3.0.CO;2-H

  6. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

    Clinical Genetics

    Volume 75, Issue 1, January 2009, Pages: 57–64, A Ługowska, P Wlodarski, R Płoski, H Mierzewska, M Dudzińska, A Matheisel, H Świętochowska and A Tylki-Szymańska

    Version of Record online : 19 NOV 2008, DOI: 10.1111/j.1399-0004.2008.01108.x

  7. Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 349–357, A Biffi, M Cesani, F Fumagalli, U Del Carro, C Baldoli, S Canale, S Gerevini, S Amadio, M Falautano, A Rovelli, G Comi, MG Roncarolo and M Sessa

    Version of Record online : 11 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01058.x

  8. Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 238–242, Ana Marcão, Heidi Simonis, Frank Schestag, M. Clara Sá Miranda and Volkmar Gieselmann

    Version of Record online : 19 SEP 2002, DOI: 10.1002/ajmg.a.10822

  9. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 315–319, Anna Tylki-Szymańska, Agnieszka Ługowska, Jolanta Chmielik, Jerzy Kotowicz, Anna Jakubowska-Winecka, Marta Zobel, Johannes Berger and Brunhilde Molzer

    Version of Record online : 8 MAY 2002, DOI: 10.1002/ajmg.10369

  10. Diagnosis of arylsulfatase A deficiency

    American Journal of Medical Genetics

    Volume 43, Issue 6, 1 August 1992, Pages: 976–982, Z. G. Li, J. S. Waye and Dr. P. L. Chang

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430614

  11. Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency

    American Journal of Medical Genetics

    Volume 45, Issue 5, 1 March 1993, Pages: 631–637, Ning Shen, Zhen-Guo Li, John S. Waye, Gordon Francis and Dr. Patricia L. Chang

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320450523

  12. Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation

    Human Mutation

    Volume 16, Issue 4, October 2000, Pages: 375–376, Laura Gort, M. Josep Coll and Amparo Chabás

    Version of Record online : 26 SEP 2000, DOI: 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C

  13. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

    Clinical Genetics

    Volume 68, Issue 1, July 2005, Pages: 48–54, A Ługowska, J Berger, A Tylki-Szymańska, B Löschl, B Molzer, M Zobel and B Czartoryska

    Version of Record online : 12 APR 2005, DOI: 10.1111/j.1399-0004.2005.00451.x

  14. Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene

    Human Mutation

    Volume 4, Issue 3, 1994, Pages: 199–207, N. M. Pastor-Soler, M. A. Rafi, J. D. Hoffman, D. Hu and D. A. Wenger

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380040305

  15. Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling

    Annals of Neurology

    Volume 34, Issue 2, August 1993, Pages: 212–218, Dr. Gordon S. Francis, Azad Bonni, Ning Shen, Peter Hechtman, Dr. Bassem Yamut, Stirling Carpenter, George Karpati and Patricia L. Chang

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410340218

  16. Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 277–281, Linda Berná, Volkmar Gieselmann, Helena Poupětová, Martin Hřebíček, Milan Elleder and Jana Ledvinová

    Version of Record online : 20 MAY 2004, DOI: 10.1002/ajmg.a.30118

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    Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case

    Psychiatry and Clinical Neurosciences

    Volume 65, Issue 1, February 2011, Pages: 105–108, Takehiro Hayashi, Masayuki Nakamura, Mio Ichiba, Mieko Matsuda, Maiko Kato, Nari Shiokawa, Hirochika Shimo, Akiyuki Tomiyasu, Satsuki Mori, Yoko Tomiyasu, Takanori Ishizuka, Yukie Inamori, Yuji Okamoto, Fujio Umehara, Kimiyoshi Arimura, Yoshiaki Nakabeppu and Akira Sano

    Version of Record online : 26 JAN 2011, DOI: 10.1111/j.1440-1819.2010.02169.x

  18. Late-onset metachromatic leukodystrophy: Molecular pathology in two siblings

    Annals of Neurology

    Volume 31, Issue 3, March 1992, Pages: 256–261, Dr Joachim Kappler, Kurt von Figura and Volkmar Gieselmann

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410310305

  19. You have full text access to this OnlineOpen article
    Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy

    EMBO Molecular Medicine

    Volume 8, Issue 5, May 2016, Pages: 489–510, Vasco Meneghini, Annalisa Lattanzi, Luigi Tiradani, Gabriele Bravo, Francesco Morena, Francesca Sanvito, Andrea Calabria, John Bringas, Jeanne M Fisher-Perkins, Jason P Dufour, Kate C Baker, Claudio Doglioni, Eugenio Montini, Bruce A Bunnell, Krystof Bankiewicz, Sabata Martino, Luigi Naldini and Angela Gritti

    Version of Record online : 29 MAR 2016, DOI: 10.15252/emmm.201505850

  20. You have free access to this content
    Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: E220–E230, Serena Grossi, Stefano Regis, Camillo Rosano, Fabio Corsolini, Graziella Uziel, Maria Sessa, Maja Di Rocco, Giancarlo Parenti, Federica Deodato, Vincenzo Leuzzi, Roberta Biancheri and Mirella Filocamo

    Version of Record online : 8 AUG 2008, DOI: 10.1002/humu.20851