Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
暂无分享,去创建一个
B. Drénou | S. Coutant | N. Elçioglu | I. Desguerre | S. Marret | Abdellah Tebani | R. Froissart | C. Caillaud | T. Levade | A. Brassier | Y. Alembik | A. Cano | B. Chabrol | C. Coubes | M. Doco‐Fenzy | F. Labarthe | A. Roubertie | A. Goldenberg | B. Héron | J. Arnoux | J. Baruteau | S. Elsayed | S. Sigaudy | P. Saugier-Veber | S. Bekri | C. Vanhulle | L. Lazaro | A. Fouilhoux | A. Brehin | S. Rivera | A. Kuster | T. Busa | S. Vergnaud | Céline Poirsier | S. Roggerone | P. Jouvencel | Bénédicte Sudrié-Arnaud | I. Dabaj | S. Torre | Laur Domitille | S. Snanoudj | H. Dranguet | Majed Al Khouri | S. Pichard | S. Roche | Marta Spodenkiewicz | M. Tardieu | A. Tebani | N. Elçioğlu | C. Poirsier | M. Spodenkiewicz
[1] S. Diederich,et al. The Clinical and Molecular Spectrum of GM1 Gangliosidosis. , 2019, The Journal of pediatrics.
[2] C. Kim,et al. Clinical findings in Brazilian patients with adult GM1 gangliosidosis , 2019, JIMD reports.
[3] Yuyu Feng,et al. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis , 2018, Metabolic Brain Disease.
[4] F. Lamari,et al. Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. , 2018, Clinica chimica acta; international journal of clinical chemistry.
[5] Murim Choi,et al. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis , 2018, Brain and Development.
[6] S. Sonnino,et al. GM1 Ganglioside: Past Studies and Future Potential , 2016, Molecular Neurobiology.
[7] M. Kabra,et al. Recurrent and novel GLB1 mutations in India. , 2015, Gene.
[8] E. Bertini,et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. , 2011, Biochimica et biophysica acta.
[9] F. Tsai,et al. Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity , 2010, Journal of Biomedical Science.
[10] U. Ramaswami,et al. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β‐galactosidase , 2009, Human mutation.
[11] Nicola Brunetti-Pierri,et al. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. , 2008, Molecular genetics and metabolism.
[12] Y. Agid,et al. Movement disorders and inborn errors of metabolism in adults: A diagnostic approach , 2008, Journal of Inherited Metabolic Disease.
[13] M. Filocamo,et al. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT‐PCR assay for GLB1 gene expression profiling , 2007, Human mutation.
[14] D. Grinberg,et al. Twenty‐one novel mutations in the GLB1 gene identified in a large group of GM1‐gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies , 2006, Human mutation.
[15] U. Muthane,et al. Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases , 2004, Movement disorders : official journal of the Movement Disorder Society.
[16] A. Drousiotou,et al. Four novel mutations in patients from the Middle East with the infantile form of GM1‐gangliosidosis , 2004, Human mutation.
[17] F. Platt,et al. Storage diseases: new insights into sphingolipid functions. , 2003, Trends in cell biology.
[18] J. Cunningham,et al. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient , 2003, Human Genetics.
[19] S. Zhang,et al. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. , 2000, American journal of human genetics.
[20] E. Zammarchi,et al. β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement , 2000, Human mutation.
[21] J. Callahan. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. , 1999, Biochimica et biophysica acta.
[22] D. Wenger,et al. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. , 1994, American journal of human genetics.
[23] N. Nardocci,et al. Chronic GM1 Gangliosidosis Presenting as Dystonia: Clinical and Biochemical Studies in a New Case , 1993, Neuropediatrics.
[24] Yoshiyuki Suzuki,et al. GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients , 1992, Annals of neurology.
[25] A. Oshima,et al. Human beta-galactosidase gene mutations in morquio B disease. , 1991, American journal of human genetics.
[26] E. Nanba,et al. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. , 1991, American journal of human genetics.
[27] N. Yanagisawa,et al. Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. , 1991, American journal of human genetics.
[28] R. Giugliani,et al. GM1 gangliosidosis: Clinical and laboratory findings in eight families , 2004, Human Genetics.
[29] T. Wight,et al. Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients. , 2004, The American journal of pathology.
[30] Yoshiyuki Suzuki,et al. BETA -GALACTOSIDOSIS (GENETIC BETA -GALACTOSIDASE DEFICIENCY) : CLINICAL END GENETIC HETEROGENEITY OF THE SKELETAL FORM , 1995 .