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1. Full Text Lysosomal storage disorders: Molecular basis and laboratory testing
by Filocamo, Mirella and Morrone, Amelia
Human genomics, ISSN 1473-9542, 2011, Volume 5, Issue 3, pp. 156 - 169
Lysosomal Storage Diseases - diagnosis | Specimen Handling | Phenotype | Proteins - metabolism | Humans | Chorionic Villi Sampling | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - metabolism | Genotype | Prenatal Diagnosis - methods | Genetic Testing - methods | Polymorphism, Genetic | Index Medicus
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2. Full Text Germline mutations in HRAS proto-oncogene cause Costello syndrome
by Niihori, Tetsuya and Matsubara, Yoichi and Kato, Kumi and Filocamo, Mirella and Ohashi, Hirofumi and Tanaka, Yukichi and Kurosawa, Kenji and Kure, Shigeo and Kawame, Hiroshi and Aoki, Yoko and Suzuki, Yoichi
Nature genetics, ISSN 1061-4036, 10/2005, Volume 37, Issue 10, pp. 1038 - 1040
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes | Amino Acid Sequence | Genetic Predisposition to Disease | Proto-Oncogene Proteins p21(ras) - genetics | Face - abnormalities | Humans | Molecular Sequence Data | Syndrome | Intellectual Disability - genetics | Cardiomyopathies - genetics | Neoplasms - genetics | Germ-Line Mutation | Female | Skin Abnormalities - genetics | Abnormalities, Multiple - genetics | Complications and side effects | Gene mutations | Physiological aspects | Research | Diagnosis | Mental retardation | Risk factors | Oncogenes | Index Medicus
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3. Full Text Unfolded protein response in Gaucher disease: From human to Drosophila
by Maor, Gali and Rencus-Lazar, Sigal and Filocamo, Mirella and Steller, Hermann and Segal, Daniel and Horowitz, Mia
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 140 - 140
ERAD | Glucocerebrosidase | Gaucher disease | Parkinson's disease | UPR | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Line | Glucosylceramidase - genetics | Animals | Gaucher Disease - metabolism | Unfolded Protein Response - genetics | Humans | Endoplasmic Reticulum - metabolism | Glucosylceramidase - metabolism | Drosophila - metabolism | Gaucher Disease - pathology | Unfolded Protein Response - physiology | Genetic aspects | Gene mutations | Drosophila | Gaucher's disease | Medical research | Mutation | Kinases | Protein folding | Metabolic disorders | Index Medicus
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4. Full Text Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
by Bendikov-Bar, Inna and Maor, Gali and Filocamo, Mirella and Horowitz, Mia
Blood cells, molecules, & diseases, ISSN 1079-9796, 02/2013, Volume 50, Issue 2, pp. 141 - 145
ERAD | Glucocerebrosidase | Gaucher disease | Ambroxol | Life Sciences & Biomedicine | Hematology | Science & Technology | Ambroxol - pharmacology | Glucosylceramidase - chemistry | Ambroxol - therapeutic use | Fibroblasts - enzymology | Glucosylceramidase - genetics | Off-Label Use | Humans | Lysosomes - enzymology | Ambroxol - adverse effects | Protein Transport - drug effects | Enzyme Stability - drug effects | Gaucher Disease - pathology | Dose-Response Relationship, Drug | Protein Folding - drug effects | Drug Evaluation, Preclinical | Gaucher Disease - drug therapy | Lysosomes - drug effects | Enzyme Replacement Therapy | Cells, Cultured - drug effects | Endoplasmic Reticulum - physiology | Combined Modality Therapy | Cells, Cultured - enzymology | Glucosylceramidase - therapeutic use | Fibroblasts - drug effects | Glucosylceramidase - drug effects | Ambroxol - administration & dosage | Skin | Primary Cell Culture | Enzymes | Hydrolases | Nervous system diseases | Index Medicus
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5. Full Text Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes
by Lugowska, Agnieszka and Hetmanczyk-Sawicka, Katarzyna and Iwanicka-Nowicka, Roksana and Fogtman, Anna and Ciesla, Jaroslaw and Purzycka-Olewiecka, Joanna Karolina and Sitarska, Dominika and Ploski, Rafal and Filocamo, Mirella and Lualdi, Susanna and Bednarska-Makaruk, Malgorzata and Koblowska, Marta
Scientific reports, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6060 - 6060
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Niemann-Pick disease | Animal models | Cell survival | Immune response | AKT protein | Gene expression | Anti-inflammatory agents | 1-Phosphatidylinositol 3-kinase | Signal transduction | Molecular modelling | DNA microarrays | Interleukin 1 | Fibroblasts | Skin | Metabolic disorders | Gaucher's disease | Index Medicus
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6. Full Text Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
by Cesani, Martina and Lorioli, Laura and Grossi, Serena and Amico, Giulia and Fumagalli, Francesca and Spiga, Ivana and Filocamo, Mirella and Biffi, Alessandra
Human mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 1, pp. 16 - 27
metachromatic leukodystrophy | ARSA | mutation | arylsulfatase A | saposin B | PSAP | Metachromatic leukodystrophy | Arylsulfatase A | Mutation | Saposin B | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Leukodystrophy, Metachromatic - genetics | Phenotype | Leukodystrophy, Metachromatic - diagnosis | Genetic Association Studies | Humans | Alleles | Databases, Genetic | Saposins - genetics | Genotype | Cerebroside-Sulfatase - genetics | Sphingolipidoses | Enzymes | Nervous system diseases | Genetic aspects | Genes | Proteins | Genetic disorders | Cells | Index Medicus
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7. Full Text Molecular analyses in pursuit of a diagnosis of Gaucher disease
by Filocamo, Mirella, PhD
Clinical therapeutics, ISSN 0149-2918, 2009, Volume 31, Issue 3, pp. S177 - S178
Internal Medicine | Medical Education
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8. Full Text Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes
by Iiritano, Stefania and Foti, Daniela and Liebhaber, Stephen A and Filocamo, Mirella and Chiefari, Eusebio and Paonessa, Francesco and Arcidiacono, Biagio and Brunetti, Antonio and Le Pera, Ilaria
Nature communications, ISSN 2041-1723, 07/2010, Volume 1, Issue 4, pp. 1 - 7
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Line | Diabetes Mellitus, Type 2 - genetics | Humans | Cells, Cultured | Gene Silencing | 3' Untranslated Regions - genetics | Molecular Sequence Data | Reverse Transcriptase Polymerase Chain Reaction | Antigens, CD - genetics | HMGA Proteins - genetics | Antigens, CD - metabolism | HMGA Proteins - metabolism | Blotting, Northern | Pseudogenes - genetics | Animals | Insulin Resistance - physiology | Models, Biological | Receptor, Insulin - genetics | HEK293 Cells | Insulin Resistance - genetics | Receptor, Insulin - metabolism | Electrophoretic Mobility Shift Assay | Mice | HeLa Cells | Index Medicus
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9. Full Text SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
by Zampieri, Stefania and Filocamo, Mirella and Pianta, Annalisa and Lualdi, Susanna and Gort, Laura and Coll, Maria Jose and Sinnott, Richard and Geberhiwot, Tarekegn and Bembi, Bruno and Dardis, Andrea
Human mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 139 - 147
lysosomal storage disorder | SMPD1 | acid sphingomyelinase | Niemann–Pick | Niemann-pick | Acid sphingomyelinase | Lysosomal storage disorder | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sphingomyelin Phosphodiesterase - genetics | Gene Expression | Niemann-Pick Disease, Type A - diagnosis | Genetic Association Studies | Exons | Introns | Humans | Open Reading Frames | RNA, Messenger - genetics | Niemann-Pick Disease, Type B - diagnosis | Databases, Genetic | Genotype | Niemann-Pick Disease, Type B - pathology | Niemann-Pick Disease, Type B - genetics | Genes, Recessive | Phenotype | RNA Splicing | Niemann-Pick Disease, Type A - pathology | Mutation | Niemann-Pick Disease, Type A - genetics | Enzymes | Databases | RNA | Analysis | Medical genetics | Genotype & phenotype | Genetic counseling | Genetic disorders | Index Medicus
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10. Full Text Norrbottnian clinical variant of Gaucher disease in Southern Italy
by Sestito, Simona and Filocamo, Mirella and Ceravolo, Ferdinando and Falvo, Francesca and Grisolia, Michele and Moricca, Maria Teresa and Cantaffa, Renato and Grossi, Serena and Strisciuglio, Pietro and Concolino, Daniela
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 507 - 511
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Gaucher Disease - epidemiology | Genotype | Male | Sweden - epidemiology | Phenotype | Gaucher Disease - genetics | beta-Glucosidase - genetics | Age of Onset | Adult | Female | Gaucher Disease - physiopathology | Italy - epidemiology | Index Medicus
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11. Full Text A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models
by Costa, Roberto and Bellesso, Stefania and Lualdi, Susanna and Manzoli, Rosa and Pistorio, Valeria and Filocamo, Mirella and Moro, Enrico
Human molecular genetics, ISSN 0964-6906, 01/2020, Volume 29, Issue 2, pp. 274 - 285
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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