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1
المؤلفون: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.
المساهمون: University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Batecs cardíacs, 0302 clinical medicine, Neurodevelopmental disorder, Heart Rate, Medicine, Child, Genetics (clinical), Mice, Knockout, Gnb5-null mouse models, GTP-Binding Protein beta Subunits, Cardiac muscle, Heart, Syndrome, IDDCA, Functional Genomics, Pedigree, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cardiac conduction anomalies, Gnb5 -null mouse models, GNB5 variants, medicine.anatomical_structure, Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, medicine.symptom, Signal Transduction, Bradycardia, Cardiac function curve, Gnb5 -null mouse model, medicine.medical_specialty, Adolescent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Contractility, Young Adult, Brain damage, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, GNB5variants, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Internal medicine, Exome Sequencing, Heart rate, Genetics, Animals, Humans, business.industry, Gene Expression Profiling, Heart beat, Proteins, Cardiac arrhythmia, Arrhythmias, Cardiac, GNB5 variant, medicine.disease, Mice, Inbred C57BL, Autonomic nervous system, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Lesions cerebrals, cardiac conduction anomalie, business, Proteïnes, 030217 neurology & neurosurgery
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https://doi.org/10.1136/jmedgenet-2020-107015Test -
2
المؤلفون: Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Canadian Institutes of Health Research, Fonds de recherche du Québec, Fonds de Recherche du Québec - Santé, Neurology, Functional Genomics, Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vazquez-Lopez, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G. A., Polychronakos, C., Wolf, N. I., Bernard, G., Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700مصطلحات موضوعية: Male, Recessive Mutations, Mitochondrial Diseases, genetics [Mitochondrial Diseases], hypomyelination, etiology [Endocrine System Diseases], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Medizin, POLR3A protein, human, genetics [Endocrine System Diseases], Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, etiology [Growth Disorders], Diagnosis, epidemiology [Growth Disorders], 4H leukodystrophy, Online Only articles, Child, Prospective cohort study, Growth Disorders, genetics [Growth Disorders], POLR3-related leukodystrophy, 0303 health sciences, DNA-Directed RNA Polymerases, Pattern-Recognition, Diffuse Hypomyelination, Classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, epidemiology [Hereditary Central Nervous System Demyelinating Diseases], Hormone Deficiency, POLR1C protein, human, Child, Preschool, Female, medicine.symptom, AcademicSubjects/MED00250, Adult, Delayed puberty, Subunit, medicine.medical_specialty, Adolescent, Context (language use), Endocrine System Diseases, Short stature, genetics [Hereditary Central Nervous System Demyelinating Diseases], Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, etiology [Hypogonadism], Internal medicine, medicine, genetics [RNA Polymerase III], Humans, Endocrine system, ddc:610, POLR3B protein, human, genetics [DNA-Directed RNA Polymerases], Clinical Research Articles, Retrospective Studies, 030304 developmental biology, complications [Hereditary Central Nervous System Demyelinating Diseases], business.industry, Hypogonadism, Biochemistry (medical), Leukodystrophy, Infant, Newborn, Infant, RNA Polymerase III, medicine.disease, complications [Mitochondrial Diseases], epidemiology [Mitochondrial Diseases], epidemiology [Endocrine System Diseases], Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, Biological Variation, Population, Mutation, epidemiology [Hypogonadism], business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone
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https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69Test -
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المؤلفون: Mercedes Pineda, Blanca Felgueroso, Eduardo Ruiz-Pesini, Ester López-Gallardo, M. Pilar Bayona-Bafaluy, Iria Roca, Rafael Artuch, María L. Couce, Sonia Emperador, Julio Montoya, Ana Fernández-Marmiesse
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instnameمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Ataxia, Mitochondrial translation, Biopsy, Peptide Chain Elongation, Translational, Short Report, Cardiomyopathy, Biology, medicine.disease_cause, DNA, Mitochondrial, Oxidative Phosphorylation, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetics (clinical), Mutation, Muscles, Homozygote, food and beverages, Fibroblasts, Peptide Elongation Factors, medicine.disease, Phenotype, Human genetics, Mitochondria, Pedigree, 030104 developmental biology, Gene Expression Regulation, medicine.symptom, Cardiomyopathies, 030217 neurology & neurosurgery
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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe61c7ae0d7c9fd73641e1dd09789677Test
https://doi.org/10.1038/ejhg.2016.124Test -
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المؤلفون: Katarina Jurickova, Věra Malinová, Juan V. Torres, Mercedes Pineda, Stefan A. Kolb, Miriam Kolnikova, Parvaneh Karimzadeh
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Ataxia, Hepatosplenomegaly, lcsh:Medicine, Patient detection, 030105 genetics & heredity, Risk Assessment, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Post-hoc analysis, medicine, Humans, Pharmacology (medical), Family history, Genetics (clinical), Retrospective Studies, NP-C Suspicion Index, Neurologic findings, business.industry, Research, lcsh:R, Age Factors, NP-C disability scales, Niemann-Pick Disease, Type C, General Medicine, Dysphagia, Hypotonia, Clinical diagnosis, Jaundice, Neonatal, Psychotic Disorders, NP-C, Screening, Female, Neonatal jaundice, medicine.symptom, Age of onset, Niemann-Pick disease Type C, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6601df5c87bc7c370a5adb7e2def03fTest
https://pubmed.ncbi.nlm.nih.gov/31266511Test -
5
المؤلفون: Rajni Khajuria, Maria Pintaudi, Silvia Russo, Angus John Clarke, Nadia Bahi-Buisson, Barbara Montomoli, Laurent Villard, Victoria Voinova, Bruria Ben-Zeev, Kirstine Ravn, Edvige Veneselli, Thierry Bienvenu, Elisa Grillo, Francesca Cogliati, Vlatka Mejaški Bošnjak, Giorgio Pini, Mercedes Pineda, Milena Djuric, Caterina Lo Rizzo, Andreea Nissenkorn, Aglaia Vignoli, Joussef Hayek, Anne Marie Bisgaard, Dana Craiu, Alessandra Renieri, Kinga Hadzsiev, Elisa Frullanti, Aleksandra Djukic, Ana Roche Martínez, Francesca Mari, Judith Armstrong, Filomena Tiziana Papa
المساهمون: Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biochimie et biologie moléculaire, CHU Cochin [AP-HP], Medical Genetics, Kennedy Center, Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, University Hospital AOUS, Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics and the Institute for Genetic and Metabolic Disease (IGMD), Carol Davila university of Medicine and Pharmacy of Bucharest, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Università di Camerino (UNICAM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), Università degli Studi di Camerino (UNICAM), Università degli Studi di Camerino = University of Camerino (UNICAM)
المصدر: International journal of genomics
International journal of genomics, Hindawi Publishing Corporation, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
INTERNATIONAL JOURNAL OF GENOMICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
International Journal of Genomics, Vol 2019 (2019)
International Journal of Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: lcsh:QH426-470, Article Subject, [SDV]Life Sciences [q-bio], CDKL5, MEDLINE, Pharmaceutical Science, Disease, computer.software_genre, Biochemistry, MECP2, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Spectrum disorder, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Database, business.industry, medicine.disease, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Clinical trial, lcsh:Genetics, FOXG1, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business, computer, 030217 neurology & neurosurgery, Research Article
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https://hal-amu.archives-ouvertes.fr/hal-02417606Test -
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المؤلفون: Vera Malinova, Katarína Juríčková, Christian Velten, Jose Luis Insua, Stefan A. Kolb, Miriam Kolnikova, Mercedes Pineda, Parvaneh Karimzadeh
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Ataxia, 1-Deoxynojirimycin, Lipid storage disorder, Adolescent, lcsh:Medicine, Disease, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Niemann-pick disease type C, Miglustat, Medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Retrospective Studies, Niemann–Pick disease, type C, business.industry, Research, Disease characteristics, lcsh:R, NP-C disability scales, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Prognosis, Hypotonia, Child, Preschool, Developmental Milestone, Linear Models, NP-C, Observational study, Female, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19db477a07f853d203289f613c5a812Test
https://pubmed.ncbi.nlm.nih.gov/30732631Test -
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المؤلفون: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Best practice, MEDLINE, lcsh:Medicine, Review, Disease, Guidelines, 03 medical and health sciences, 0302 clinical medicine, Diagnosis, medicine, Humans, Pharmacology (medical), Niemann-Pick Type C, Intensive care medicine, Genetics (clinical), Shared care, business.industry, Incidence (epidemiology), lcsh:R, Niemann-Pick Disease, Type C, General Medicine, Evidence-based medicine, Management, Natural history, 030104 developmental biology, Practice Guidelines as Topic, Age of onset, NPC, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4bc7fb789320c21bff4f982960d170Test
https://doi.org/10.1186/s13023-018-0785-7Test -
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المؤلفون: Stefan A. Kolb, Eugen Mengel, Christian J. Hendriksz, Juan V. Torres, Mercedes Pineda, Mark Walterfang
المصدر: Molecular genetics and metabolism. 120(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Discriminatory power, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, medicine, Genetics, Prevalence, Cluster Analysis, Humans, In patient, Age of Onset, Child, Molecular Biology, Niemann–Pick disease, type C, business.industry, Mental Disorders, Disease progression, Age Factors, Infant, Newborn, Infant, Niemann-Pick Disease, Type C, Middle Aged, medicine.disease, Hypotonia, Viscera, 030104 developmental biology, Child, Preschool, Cohort, Developmental Milestone, Splenomegaly, Disease Progression, Female, medicine.symptom, Nervous System Diseases, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379a1fb833cff2c296589cb2fd342bb2Test
https://pubmed.ncbi.nlm.nih.gov/27993458Test -
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المؤلفون: Ester López-Gallardo, Leticia Pias-Peleteiro, Pilar Bayona-Bafaluy, Alejandra Darling, Anna Codina, Plácido Navas, Eduardo Ruiz-Pesini, Angels García-Cazorla, Rafael Artuch, Frederic Tort, Julio Montoya, Cecilia Jimenez-Mallebrera, Juan Darío Ortigoza-Escobar, Antonia Ribes, Sonia Emperador, Andrés Nascimento, Cristina Jou, Delia Yubero, César Arjona, Mercedes Pineda, Judith Armstrong, Belén Pérez-Dueñas, Maria del Mar O’Callaghan, Francesc Palau, Laura Gort, Raquel Montero
المصدر: Journal of Clinical Medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Volume 8
Issue 1
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Clinical Medicine, Vol 8, Iss 1, p 68 (2019)مصطلحات موضوعية: Weakness, Mitochondrial DNA, Pathology, medicine.medical_specialty, Mitochondrial disease, lcsh:Medicine, Exercise intolerance, Article, 03 medical and health sciences, biochemical markers, 0302 clinical medicine, muscle histopathology, medicine, Cytochrome c oxidase, Myopathy, 030304 developmental biology, next generation sequencing, mitochondrial diseases, 0303 health sciences, pediatric patients, biology, business.industry, lcsh:R, General Medicine, medicine.disease, Nuclear DNA, Cohort, biology.protein, medicine.symptom, business, 030217 neurology & neurosurgery, myopathy
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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ccd5045efa1224ac08119e00d8b565Test
https://doi.org/10.3390/jcm8010068Test -
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المؤلفون: Bénédicte Héron, Jackie Imrie, Vassili Valayannopoulos, Charles Marques Lourenço, Mercedes Pineda, Stefan A. Kolb, Juan V. Torres, Eugen Mengel, Helena Jahnová, Pavel Ješina, Parvaneh Karimzadeh, Vanessa van der Linden
المصدر: BMC Pediatrics
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Cataplexy, Population, Disease, Risk Assessment, Sensitivity and Specificity, Decision Support Techniques, 03 medical and health sciences, 0302 clinical medicine, Diagnosis, Health Status Indicators, Humans, Medicine, Pediatrics, Perinatology, and Child Health, education, Diagnostics, Retrospective Studies, education.field_of_study, Early-onset, Vertical supranuclear gaze palsy, Niemann–Pick disease, type C, business.industry, Age Factors, Infant, Newborn, Case-control study, Infant, Niemann-Pick Disease, Type C, Retrospective cohort study, medicine.disease, Logistic Models, 030104 developmental biology, Paediatric, Case-Control Studies, Child, Preschool, Suspicion Index, Pediatrics, Perinatology and Child Health, NP-C, Screening, Female, Niemann-Pick disease Type C, medicine.symptom, business, Risk assessment, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b51d39d7b4412ca63446347f0bd92aTest
https://doi.org/10.1186/s12887-016-0641-7Test