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There are 16100 results for: content related to: A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

  1. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

    Annals of Human Genetics

    Volume 79, Issue 6, November 2015, Pages: 460–469, Young Se Hyun, Jinho Lee, Hye Jin Kim, Young Bin Hong, Heasoo Koo, Alec S.T. Smith, Deok-Ho Kim, Byung-Ok Choi and Ki Wha Chung

    Article first published online : 24 SEP 2015, DOI: 10.1111/ahg.12134

  2. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

    Journal of the Peripheral Nervous System

    Volume 17, Issue 2, June 2012, Pages: 141–146, Cécile Baudot, Clothilde Esteve, Christel Castro, Yannick Poitelon, Camille Mas, Tarik Hamadouche, Maryam El-Rajab, Nicolas Lévy, André Megarbané and Valérie Delague

    Article first published online : 27 JUN 2012, DOI: 10.1111/j.1529-8027.2012.00405.x

  3. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes

    Journal of the Peripheral Nervous System

    Volume 18, Issue 2, June 2013, Pages: 113–129, Meriem Tazir, Mounia Bellatache, Sonia Nouioua and Jean-Michel Vallat

    Article first published online : 19 JUN 2013, DOI: 10.1111/jns5.12026

  4. You have full text access to this Open Access content
    Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 4, August 2008, Pages: 1169–1176, Hiroyuki Nakanishi and Yoshimi Takai

    Article first published online : 10 APR 2008, DOI: 10.1111/j.1582-4934.2008.00345.x

  5. You have full text access to this Open Access content
    Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy

    EMBO Molecular Medicine

    Volume 4, Issue 6, June 2012, Pages: 486–499, Sandra Goebbels, Jan H. Oltrogge, Susanne Wolfer, Georg L. Wieser, Tobias Nientiedt, Alexander Pieper, Torben Ruhwedel, Matthias Groszer, Michael W. Sereda and Klaus-Armin Nave

    Article first published online : 4 APR 2012, DOI: 10.1002/emmm.201200227

  6. Demyelinating prenatal and infantile developmental neuropathies

    Journal of the Peripheral Nervous System

    Volume 17, Issue 1, March 2012, Pages: 32–52, Eppie M. Yiu and Monique M. Ryan

    Article first published online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00379.x

  7. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

    Journal of the Peripheral Nervous System

    Volume 20, Issue 1, March 2015, Pages: 52–59, Andreas Roos, Joachim Weis, Rudolf Korinthenberg, Henry Fehrenbach, Martin Häusler, Stephan Züchner, Christoph Mache, Holger Hubmann, Michaela Auer-Grumbach and Jan Senderek

    Article first published online : 15 JUN 2015, DOI: 10.1111/jns.12106

  8. 2015 Peripheral Nerve Society Biennial Meeting

    Journal of the Peripheral Nervous System

    Volume 20, Issue 2, June 2015, Pages: 88–253,

    Article first published online : 21 AUG 2015, DOI: 10.1111/jns.12129

  9. Gene expression analysis of laminin-1-induced neurite outgrowth in human mesenchymal stem cells derived from bone marrow

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 2, February 2015, Pages: 746–761, S. Mruthyunjaya, D. Parveen, Reecha D. Shah, Rumma Manchanda, Ravibhushan Godbole, Madavan Vasudevan and Padma Shastry

    Article first published online : 27 MAY 2014, DOI: 10.1002/jbm.a.35221

  10. The involvement of gynaecological patients in the development of a clinical guideline for resumption of (work) activities in the Netherlands

    Health Expectations

    Volume 18, Issue 5, October 2015, Pages: 1397–1412, Carina A.C.M. Pittens, Antonie Vonk Noordegraaf, Saskia C. van Veen, Johannes R. Anema, Judith A.F. Huirne and Jacqueline E.W. Broerse

    Article first published online : 29 AUG 2013, DOI: 10.1111/hex.12121

  11. You have full text access to this OnlineOpen article
    Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

    Clinical Endocrinology

    Volume 72, Issue 5, May 2010, Pages: 589–594, Teng-Teng L. L. Chung, Li F. Chan, Louise A. Metherell and Adrian J. L. Clark

    Article first published online : 24 JUN 2009, DOI: 10.1111/j.1365-2265.2009.03663.x

  12. You have free access to this content
    The FWD1/β-TrCP-mediated degradation pathway establishes a ‘turning off switch’ of a Cdc42 guanine nucleotide exchange factor, FGD1

    Genes to Cells

    Volume 10, Issue 3, March 2005, Pages: 241–251, Makio Hayakawa, Hideo Kitagawa, Keiji Miyazawa, Masatoshi Kitagawa and Kiyomi Kikugawa

    Article first published online : 22 FEB 2005, DOI: 10.1111/j.1365-2443.2005.00834.x

  13. Isolation and characterization of cAMP unresponsive (frigid) aggregation-deficient mutants of Dictyostelium discoideum

    Developmental Genetics

    Volume 3, Issue 4, 1982, Pages: 283–297, Dr. M. Barrie Coukell, Sergio Lappano and Anne M. Cameron

    Article first published online : 6 FEB 2005, DOI: 10.1002/dvg.1020030403

  14. You have full text access to this OnlineOpen article
    Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 197–202, Mariana Pérez-Coria, José J. Lugo-Trampe, Michell Zamudio-Osuna, Iram P. Rodríguez-Sánchez, Angel Lugo-Trampe, Beatriz de la Fuente-Cortez, Luis D. Campos-Acevedo and Laura E. Martínez-de-Villarreal

    Article first published online : 17 FEB 2015, DOI: 10.1002/mgg3.132

  15. Research Review: Family group decision-making: a promising practice in need of more programme theory and research

    Child & Family Social Work

    Volume 12, Issue 2, May 2007, Pages: 202–209, David Crampton

    Article first published online : 16 AUG 2006, DOI: 10.1111/j.1365-2206.2006.00442.x

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    The function of RhoGTPases in axon ensheathment and myelination


    Volume 56, Issue 14, 1 November 2008, Pages: 1508–1517, M. Laura Feltri, Ueli Suter and João B. Relvas

    Article first published online : 19 SEP 2008, DOI: 10.1002/glia.20752

  17. Cdc42 regulates schwann cell radial sorting and myelin sheath folding through NF2/merlin-dependent and independent signaling


    Volume 61, Issue 11, November 2013, Pages: 1906–1921, Li Guo, Chandra Moon, Yi Zheng and Nancy Ratner

    Article first published online : 6 SEP 2013, DOI: 10.1002/glia.22567

  18. ‘It is me who eats, to nourish him’: a mixed-method study of breastfeeding in post-earthquake Haiti

    Maternal & Child Nutrition

    Volume 9, Issue 1, January 2013, Pages: 74–89, Jenny Dörnemann and Ann H. Kelly

    Article first published online : 12 JUL 2012, DOI: 10.1111/j.1740-8709.2012.00428.x

  19. Experimental assessment of flue gas desulfurization residues and basic oxygen furnace slag on fatigue and moisture resistance of HMA

    Fatigue & Fracture of Engineering Materials & Structures

    Volume 37, Issue 11, November 2014, Pages: 1242–1253, Z.-W. Chen, Y. Xiao, L. Pang, W.-B. Zeng and S.-P. Wu

    Article first published online : 19 MAY 2014, DOI: 10.1111/ffe.12205

  20. Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

    Clinical Endocrinology

    Volume 67, Issue 2, August 2007, Pages: 168–174, Catherine E. Keegan, Janna E. Hutz, Andrea S. Krause, Katrin Koehler, Louise A. Metherell, Sosipatros Boikos, Sotirios Stergiopoulos, Adrian J. L. Clark, Constantine A. Stratakis, Angela Huebner and Gary D. Hammer

    Article first published online : 8 APR 2007, DOI: 10.1111/j.1365-2265.2007.02855.x