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1. Parkinson's disease & movement disorders
by Jankovic, Joseph, editor and Tolosa, Eduardo, editor
2015, Sixth edition., ISBN 1608311767, xii, 576 pages
Top experts from all over the world have been brought together by the editors, to give a world of expertise on this important subject, with a strong emphasis... 
Parkinson Disease | Movement Disorders
Book
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2. Sarcoidosis and other granulomatous diseases of the lung
by Fanburg, Barry L
1983, Lung biology in health and disease, ISBN 0824718666, Volume 20, xx, 516
Granuloma | Granulomatous diseases, Chronic | Lungs | Sarcoidosis | Lung diseases | Diseases
Book
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3. Full Text Pompe's disease
by van der Ploeg, Ans T, Dr and Reuser, Arnold JJ, PhD
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9646, pp. 1342 - 1353
Summary Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a... 
Internal Medicine | Recombinant Proteins - therapeutic use | Prognosis | Glycogen Storage Disease Type II - genetics | Humans | Genotype | Glycogen Storage Disease Type II - drug therapy | Treatment Outcome | Disease Progression | Glycogen Storage Disease Type II - physiopathology | alpha-Glucosidases - therapeutic use | Adult | Glycogen Storage Disease Type II - diagnosis | Child | Care and treatment | Glycogenosis | Diagnosis
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4. Von Willebrand disease
: basic and clinical aspects
by Federici, Augusto B
2011, 1. Aufl., ISBN 1444329928, xiii, 252
Von Willebrand Disease: Basic and Clinical Aspectsprovides an insight into all aspects of the condition. Since its discovery, von Willebrand disease has been... 
Von Willebrand disease | von Willebrand Diseases | Von Willebrand Diseases
Book
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5. Full Text Menkes disease
by Tümer, Zeynep and Møller, Lisbeth B
European Journal of Human Genetics, ISSN 1018-4813, 05/2010, Volume 18, Issue 5, pp. 511 - 518
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with... 
ATP7A | Copper | Menkes disease | OCCIPITAL-HORN-SYNDROME | BRINDLED MOUSE | MACULAR MOUSE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CRITICAL PERIOD | COPPER TRANSPORT | ATP7A GENE | MURINE MODEL | GENETICS & HEREDITY | copper | MUTATIONS | EXPRESSION | ATPASE GENE | Copper-transporting ATPases | Humans | Adenosine Triphosphatases - metabolism | Menkes Kinky Hair Syndrome - genetics | Menkes Kinky Hair Syndrome - therapy | Mutation - genetics | Menkes Kinky Hair Syndrome - diagnosis | Phenotype | Animals | Cation Transport Proteins - metabolism | Menkes Kinky Hair Syndrome - physiopathology | Copper - metabolism | Adenosine Triphosphatases - chemistry | Cation Transport Proteins - genetics | Adenosine Triphosphatases - genetics | Cation Transport Proteins - chemistry | Disease Models, Animal | Hair | Enzymes | ATP7A protein | Genomics | Metabolism | Patients | Premature labor | Proteins | Histidine | Neurodegeneration | Genetics | Recessive traits | Mutation | Age | Binding sites | Practical Genetics
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6. Full Text Dent's disease
by Devuyst, Olivier and Thakker, Rajesh V
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 28 - 28
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria,... 
MEDICINE, RESEARCH & EXPERIMENTAL | CLC-5 EXPRESSION | LOWE-SYNDROME | LINKED RECESSIVE NEPHROLITHIASIS | KIDNEY PROXIMAL TUBULES | MOUSE MODEL | GENETICS & HEREDITY | RENAL CHLORIDE CHANNEL | MOLECULAR-WEIGHT PROTEINURIA | IMPAIRS ENDOCYTOSIS | MUTATIONS | CELL-LINES | Kidney Diseases - physiopathology | Phosphoric Monoester Hydrolases - genetics | Humans | Kidney Diseases - diagnosis | Male | Chloride Channels - genetics | Proteinuria - genetics | Dent Disease - therapy | Kidney Diseases - genetics | Dent Disease - physiopathology | Dent Disease - diagnosis | Nephrocalcinosis - genetics | Dent Disease - genetics | Kidney Diseases - therapy | Female | Hypercalciuria - genetics | Mutation | Nephrolithiasis - genetics | Care and treatment | Gene mutations | Genetic aspects | Dent's disease | Diagnosis | Health aspects | Risk factors | Proteins | Cataracts | Disease | Females | Rodents
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7. Full Text Genetics of Congenital Heart Disease: The Glass Half Empty
by Fahed, Akl C and Gelb, Bruce D and Seidman, J G and Seidman, Christine E
Circulation Research, ISSN 0009-7330, 02/2013, Volume 112, Issue 4, pp. 707 - 720
Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental... 
genetics, medical | congenital abnormalities | heart defects, congenital | CARDIAC OUTFLOW TRACT | COPY-NUMBER VARIANTS | CARDIAC & CARDIOVASCULAR SYSTEMS | CONDUCTION SYSTEM-DEVELOPMENT | HEAVY-CHAIN GENE | LEFT-RIGHT ASYMMETRY | ATRIAL SEPTAL-DEFECTS | BICUSPID AORTIC-VALVE | PERIPHERAL VASCULAR DISEASE | PATENT DUCTUS-ARTERIOSUS | HOLT-ORAM-SYNDROME | HEMATOLOGY | TRANSCRIPTION FACTOR | Abnormalities, Multiple - pathology | Chromosome Disorders - pathology | Heart Defects, Congenital - classification | Prevalence | Genetic Association Studies | Heart Defects, Congenital - etiology | Models, Cardiovascular | Humans | Heart Defects, Congenital - pathology | Aneuploidy | Infant | Genes, Recessive | Syndrome | Fetal Heart - pathology | Heart Defects, Congenital - genetics | Point Mutation | Systems Biology - methods | Genes, X-Linked | Genes, Dominant | Heart Defects, Congenital - epidemiology | Models, Genetic | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Infant, Newborn | heart | genetics | congenital
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8. Cardiomyopathies
: clinical presentation, differential diagnosis, and management
by Shaver, James A
1988, ISBN 0803678215, xvii, 288
Book
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9. Full Text Genetics of Parkinson's disease
by Lill, Christina M
Molecular and Cellular Probes, ISSN 0890-8508, 12/2016, Volume 30, Issue 6, pp. 386 - 396
Almost two decades after the identification of as the first causative gene in Parkinson's disease (PD) and the subsequent understanding that genetic factors... 
Parkinson's disease | GWAS | Genome-wide association study | Interaction | Prediction | Environment | Genetic association | Epidemiology | Genetic risk score | COMMON VARIANTS | LRRK2 GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | RISK | TAU GENE | ALPHA-SYNUCLEIN | CELL BIOLOGY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | AUTOSOMAL-RECESSIVE PARKINSONISM | MUTATIONS | ONSET | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Risk Factors | Polymorphism, Single Nucleotide | alpha-Synuclein - genetics | Parkinson Disease - genetics | Genome-Wide Association Study - methods | Ubiquitin-Protein Ligases - genetics | Gene-Environment Interaction | Genomics | Genetic aspects
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10. Full Text LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
by Pettazzoni, Magali and Froissart, Roseline and Pagan, Cécile and Vanier, Marie T and Ruet, Séverine and Latour, Philippe and Guffon, Nathalie and Fouilhoux, Alain and Germain, Dominique P and Levade, Thierry and Vianey-Saban, Christine and Piraud, Monique and Cheillan, David
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181700
Background The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies.... 
DIAGNOSIS | GENE | MULTIDISCIPLINARY SCIENCES | LYSOSOMAL STORAGE DISEASES | PSYCHOSINE | FABRY DISEASE | ENZYME REPLACEMENT THERAPY | CHITOTRIOSIDASE | DRIED BLOOD SPOTS | GLOBOID-CELL LEUKODYSTROPHY | GAUCHER-DISEASE | Tandem Mass Spectrometry - standards | Humans | Prenatal Diagnosis | Male | Biomarkers - blood | Chromatography, High Pressure Liquid | Fabry Disease - blood | Sphingolipids - blood | Sensitivity and Specificity | Adult | Female | Niemann-Pick Disease, Type C - diagnosis | Niemann-Pick Disease, Type C - blood | Infant, Newborn | Sphingolipidoses | Amniotic fluid | Physiological aspects | Sphingolipids | Research | Diagnosis | Properties | Risk factors | Niemann-Pick disease | Multiplexing | Plasma | Edema | Gangliosidosis | Inborn errors of metabolism | Disease | Fetuses | Metabolism | Medical screening | Disease control | Patients | Fabry's disease | Diseases | Screening | Enzymatic activity | Hydrops fetalis | Biomarkers | Glucosylceramidase | Diagnostic systems | Mutation | Gaucher's disease | Life Sciences
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11. Stargardt disease
by Tsang, Stephen H and Sharma, Tarun
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 139 - 151
Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. Age of... 
Autosomal recessive | Stargardt disease | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
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12. Full Text Parkin Disease: A Clinicopathologic Entity?
by Doherty, Karen M and Silveira-Moriyama, Laura and Parkkinen, Laura and Healy, Daniel G and Farrell, Michael and Mencacci, Niccolo E and Ahmed, Zeshan and Brett, Francesca M and Hardy, John and Quinn, Niall and Counihan, Timothy J and Lynch, Timothy and Fox, Zoe V and Revesz, Tamas and Lees, Andrew J and Holton, Janice L
JAMA Neurology, ISSN 2168-6149, 05/2013, Volume 70, Issue 5, pp. 571 - 579
IMPORTANCE Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. The few... 
RECESSIVE JUVENILE PARKINSONISM | LEWY BODY PATHOLOGY | LOCALIZATION | GENE | PHENOTYPE | MUTATIONS | NEUROPATHOLOGY | SUBSTANTIA-NIGRA | ONSET | CLINICAL NEUROLOGY | FAMILY | Severity of Illness Index | Tissue Banks | Humans | Middle Aged | Male | Parkinsonian Disorders - classification | Parkinsonian Disorders - pathology | Age of Onset | Brain - pathology | Adult | Female | Parkinsonian Disorders - genetics | Ubiquitin-Protein Ligases - genetics
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13. Full Text α‐Synuclein oligomers and clinical implications for Parkinson disease
by Kalia, Lorraine V and Kalia, Suneil K and McLean, Pamela J and Lozano, Andres M and Lang, Anthony E
Annals of Neurology, ISSN 0364-5134, 02/2013, Volume 73, Issue 2, pp. 155 - 169
Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century.... 
RECESSIVE JUVENILE PARKINSONISM | IN-VITRO | POLYGLUTAMINE OLIGOMERS | LEWY BODY | ALZHEIMERS-DISEASE | MOLECULAR CHAPERONES | ENDOPLASMIC-RETICULUM STRESS | LONG-TERM POTENTIATION | GRANULAR TAU-OLIGOMERS | GLUCOCEREBROSIDASE MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Oligonucleotides - metabolism | Parkinson Disease - pathology | Animals | alpha-Synuclein - toxicity | Humans | Oligonucleotides - toxicity | Inclusion Bodies - pathology | Parkinson Disease - metabolism | Inclusion Bodies - metabolism | alpha-Synuclein - metabolism | Nerve Degeneration - metabolism | Nerve Degeneration - pathology
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