521 results on '"Filocamo, Mirella"'
Search Results
52. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations
53. Enigmatic In Vivo Iduronate-2-Sulfatase (IDS) Mutant Transcript Correction to Wild-Type in Hunter Syndrome
54. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms
55. Molecular Characterization of 22 Novel UDP-N-Acetylglucosamine-1-Phosphate Transferase α- and β-Subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIα/β and IIIα/β in 46 Patients
56. Identification and Molecular Characterization of Six Novel Mutations in the UDP-N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit (GNPTG) Gene in Patients with Mucolipidosis III Gamma
57. Mutations in MFSD8/CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis
58. Molecular Analysis of ARSA and PSAP Genes in Twenty-one Italian Patients with Metachromatic Leukodystrophy: Identification and Functional Characterization of 11 Novel ARSA Alleles
59. Haplotype Analysis Suggests a Single Balkan Origin for the Gaucher Disease [D409H;H255Q] Double Mutant Allele
60. Molecular Analysis and Characterization of Nine Novel CTSK Mutations in Twelve Patients Affected by Pycnodysostosis
61. Mutational Analysis of the HGSNAT Gene in Italian Patients With Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
62. GM1 Gangliosidosis: Molecular Analysis of Nine Patients and Development of an RT-PCR Assay for GLB1 Gene Expression Profiling
63. First-trimester fetal nuchal translucency and inherited metabolic disorders
64. Molecular Analysis of the HEXA Gene in Italian Patients With Infantile and Late Onset Tay-Sachs Disease: Detection of Fourteen Novel Alleles
65. Functional In Vitro Characterization of 14 SMPD1 Mutations Identified in Italian Patients Affected by Niemann Pick Type B Disease
66. Gaucher disease phenotype
67. Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)
68. Nitric Oxide Production Stimulated by the Basic Fibroblast Growth Factor Requires the Synthesis of Ceramide
69. A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene
70. Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
71. A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models
72. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations
73. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
74. An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient
75. A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
76. A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs
77. Pulmonary Manifestations of Gaucher Disease: An Increased Risk for L444P Homozygotes?
78. A T>C transition causing a Leu>Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient
79. Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy
80. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
81. Identification of a Novel Recombinant Allele in Three Unrelated Italian Gaucher Patients: Implications for Prognosis and Genetic Counseling
82. Functional Characterization of the Novel Mutation IVS 8 (−11delC) (−14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I
83. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
84. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
85. FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)
86. Additional file 1: of The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
87. In vitrorecapitulation of the site-specific editing (to wild-type) of mutantIDSmRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs
88. Patients derived cellular models to investigate the pathogenesis and to develop therapies for human disorders caused by acid ceramidase deficiency. (P1.139)
89. A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.
90. The EuroBioBank Network : ten years of hands-on experience of collaborative, transnational biobanking for rare diseases
91. Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II
92. Norrbottnian clinical variant of Gaucher disease in Southern Italy
93. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
94. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
95. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
96. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy
97. Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm
98. In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
99. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
100. Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling
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