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1. Full Text Autophagy in lysosomal storage disorders
by Lieberman, Andrew P and Puertollano, Rosa and Raben, Nina and Slaugenhaupt, Susan and Walkley, Steven U and Ballabio, Andrea
Autophagy, ISSN 1554-8627, 05/2012, Volume 8, Issue 5, pp. 719 - 730
autophagy | mucopolysaccharidoses | lysosomal storage disorders | lysosomes | glycogenosis | sphingolipidoses | Mucolipidosis Type IV | Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Mucolipidosis type IV | Sphingolipidoses | Glycogenosis | Lysosomal storage disorders | Mucopolysaccharidoses | Lysosomes | Autophagy | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Animals | Muscles - ultrastructure | Models, Biological | Humans | Lysosomal Storage Diseases - etiology | Muscles - pathology | Lysosomal Storage Diseases - pathology | Index Medicus | Review
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2. Full Text Familial dysautonomia: History, genotype, phenotype and translational research
by Norcliffe-Kaufmann, Lucy and Slaugenhaupt, Susan A and Kaufmann, Horacio
Progress in neurobiology, ISSN 0301-0082, 05/2017, Volume 152, pp. 131 - 148
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Animals | Genetic Markers - genetics | Humans | Drug Discovery - trends | Genotype | Treatment Outcome | Translational Medical Research - trends | Evidence-Based Medicine | Dysautonomia, Familial - drug therapy | Genetic Testing - methods | Dysautonomia, Familial - genetics | Medical colleges | Development and progression | Nervous system diseases | Genetic aspects | Monoamine oxidase | Index Medicus
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3. Full Text Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV
by Venugopal, Bhuvarahamurthy and Browning, Marsha F and Curcio-Morelli, Cyntia and Varro, Andrea and Michaud, Norman and Nanthakumar, Nanda and Walkley, Steven U and Pickel, James and Slaugenhaupt, Susan A
American journal of human genetics, ISSN 0002-9297, 2007, Volume 81, Issue 5, pp. 1070 - 1083
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Errors of metabolism | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Carbohydrates (enzymatic deficiencies). Glycogenosis | TRPM Cation Channels - deficiency | Body Weight | Eye Diseases - complications | Gastric Mucosa - pathology | Stomach Diseases - pathology | Paralysis - pathology | Transient Receptor Potential Channels | Stomach Diseases - complications | Eye Diseases - pathology | Pyramidal Cells - ultrastructure | Disease Models, Animal | Nervous System Diseases - pathology | Gastrins - blood | Gene Targeting | Inclusion Bodies - ultrastructure | Longevity | Nervous System Diseases - complications | Mice, Knockout | Gastric Mucosa - ultrastructure | Mucolipidoses - complications | Mucolipidoses - pathology | Animals | Hindlimb - pathology | Survival Analysis | Mice | Retinal Degeneration - pathology | Models | Research | Mucolipidoses | Mutation (Biology) | Gastrin | Neurology | Pathology | Ophthalmology | Digestive system | Rodents | Genes | Index Medicus
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4. Full Text Mitral valve disease-morphology and mechanisms
by Levine, Robert A and Hagége, Albert A and Judge, Daniel P and Padala, Muralidhar and Dal-Bianco, Jacob P and Aikawa, Elena and Beaudoin, Jonathan and Bischoff, Joyce and Bouatia-Naji, Nabila and Bruneval, Patrick and Butcher, Jonathan T and Carpentier, Alain and Chaput, Miguel and Chester, Adrian H and Clusel, Catherine and Delling, Francesca N and Dietz, Harry C and Dina, Christian and Durst, Ronen and Fernandez-Friera, Leticia and Handschumacher, Mark D and Jensen, Morten O and Jeunemaitre, Xavier P and Marec, Hervé Le and Tourneau, Thierry Le and Markwald, Roger R and Mérot, Jean and Messas, Emmanuel and Milan, David P and Neri, Tui and Norris, Russell A and Peal, David and Perrocheau, Maelle and Probst, Vincent and Puceát, Michael and Rosenthal, Nadia and Solis, Jorge and Schott, Jean-Jacques and Schwammenthal, Ehud and Slaugenhaupt, Susan A and Song, Jae-Kwan and Yacoub, Magdi H and Leducq Mitral Transatlantic Networ and Leducq Mitral Transatlantic Network and for the Leducq Mitral Transatlantic Network
Nature reviews cardiology, ISSN 1759-5002, 12/2015, Volume 12, Issue 12, pp. 689 - 710
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Humans | Mitral Valve Insufficiency | Heart valve diseases | Gene mutations | Development and progression | Genetic aspects | Cardiovascular research | Identification and classification | Health aspects | Index Medicus | Life Sciences
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5. Full Text The GPR54 Gene as a Regulator of Puberty
by Seminara, Stephanie B and Messager, Sophie and Chatzidaki, Emmanouella E and Thresher, Rosemary R and Acierno, James S and Shagoury, Jenna K and Bo-Abbas, Yousef and Kuohung, Wendy and Schwinof, Kristine M and Hendrick, Alan G and Zahn, Dirk and Dixon, John and Kaiser, Ursula B and Slaugenhaupt, Susan A and Gusella, James F and O'Rahilly, Stephen and Carlton, Mark B.L and Crowley, William F and Aparicio, Samuel A.J.R and Colledge, William H
The New England journal of medicine, ISSN 0028-4793, 10/2003, Volume 349, Issue 17, pp. 1614 - 1627
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance | Receptors, Neuropeptide - deficiency | Gonadotropins - blood | Humans | Gonads - pathology | Male | Lod Score | Puberty - genetics | DNA Mutational Analysis | Female | Models, Animal | Gonadotropins - deficiency | Sexual Maturation - genetics | Receptors, G-Protein-Coupled | Receptors, Neuropeptide - genetics | Reverse Transcriptase Polymerase Chain Reaction | Genes, Recessive | Gonadotropin-Releasing Hormone - blood | Mice, Knockout | Hypogonadism - genetics | Phenotype | Animals | Pedigree | Mice | Mutation | Receptors, Kisspeptin-1 | Puberty | Genetic aspects | Studies | Pituitary gland | Hormones | Index Medicus | Abridged Index Medicus
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