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المؤلفون: Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk
المساهمون: Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Brain Imaging, Radiology and nuclear medicine
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Neurogenetics, 21(2), 121-133. Springer Verlag
Neurogenetics, 21(2), 121-133. Springer, Cham
Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4
Neurogenetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Superior cerebellar peduncle, Choreiform movement, Caudate nucleus, Lipoproteïnes, PHENOTYPE, 0302 clinical medicine, Basal ganglia, Malalties hereditàries, CATALYTIC SUBUNIT, 4H LEUKODYSTROPHY, Genetics (clinical), DIFFUSE HYPOMYELINATION, Dystonia, RECESSIVE MUTATIONS, Movement Disorders, Putamen, Brain, White Matter, medicine.anatomical_structure, Child, Preschool, Original Article, Female, CLINICAL SPECTRUM, Genetic disorders, Brainstem, Hypomyelination, MRI, Adult, medicine.medical_specialty, Lipoproteins, Striatum, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, business.industry, POLR3A, Leukodystrophy, Infant, RNA Polymerase III, medicine.disease, POLR3-RELATED LEUKODYSTROPHY, Neostriatum, 030104 developmental biology, Mutation, Inferior cerebellar peduncle, business, 030217 neurology & neurosurgery
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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/dgaa700
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/dgaa700
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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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69 -
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المؤلفون: Gerald V. Raymond, Ashutosh Kumar, Himadri Patel, Gayatra Mainali
المصدر: Neurology. 94(10)
مصطلحات موضوعية: Jacobsen Distal 11q Deletion Syndrome, medicine.medical_specialty, business.industry, Macrocephaly, Brain, Neuroradiologist, medicine.disease, Radiology report, 03 medical and health sciences, 0302 clinical medicine, Rare case, Diffuse brain atrophy, Medicine, Humans, 030212 general & internal medicine, Neurology (clinical), Radiology, Jacobsen syndrome, medicine.symptom, business, 030217 neurology & neurosurgery, Diffuse hypomyelination
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75be1c976c05f171540d663bc8a678b1
https://pubmed.ncbi.nlm.nih.gov/32152241 -
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المؤلفون: Marjo S. van der Knaap, Nicole I. Wolf
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Neurology, 94(10). Lippincott Williams and Wilkins
Wolf, N I & Van Der Knaap, M S 2020, ' Reader response : Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain ', Neurology, vol. 94, no. 10, pp. 458 . https://doi.org/10.1212/WNL.0000000000009070مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Leukodystrophy, Fluid-attenuated inversion recovery, medicine.disease, White matter, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine.anatomical_structure, Rare case, medicine, 030212 general & internal medicine, Neurology (clinical), Jacobsen syndrome, business, 030217 neurology & neurosurgery, Diffuse hypomyelination
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326d7eb7b1508b38a09b7871b7f076da
https://research.vumc.nl/en/publications/3a511631-f8ec-4d42-a290-8d8825a3e169 -
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المؤلفون: Zeynep Selen Karalok, Esra Gurkasb, Kursad Aydinc, Serdar Ceylaner
المصدر: Journal of Pediatric Neurosciences
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Peripheral polyneuropathy, Case Report, Cataract, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine, Brain magnetic resonance imaging, business.industry, General Neuroscience, myelination, medicine.disease, FAM126A, Peripheral neuropathy, medicine.anatomical_structure, Peripheral nervous system, Pediatrics, Perinatology and Child Health, Presentation (obstetrics), business, Neurological impairment, 030217 neurology & neurosurgery, Diffuse hypomyelination, MRI
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المؤلفون: Gayatra Mainali, Himadri Patel, Ashutosh Kumar, Gerald Raymond
المصدر: Neurology. 92:e1665-e1666
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neonatal Thrombocytopenia, Hypoplastic left heart syndrome, 03 medical and health sciences, 0302 clinical medicine, Rare case, Humans, Medicine, Jacobsen Distal 11q Deletion Syndrome, 030212 general & internal medicine, Jacobsen syndrome, Diffuse hypotonia, medicine.diagnostic_test, business.industry, Brain, Infant, Magnetic resonance imaging, Unusual facies, medicine.disease, Magnetic Resonance Imaging, White Matter, Neurology (clinical), business, 030217 neurology & neurosurgery, Diffuse hypomyelination
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d31d883ca3ba5c4955a744c3ea83763
https://doi.org/10.1212/wnl.0000000000007234 -
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المؤلفون: Claudia Di Blasi, Marina Mora, Nens van Alfen, F. Colleoni, Henk J. ter Laak
المصدر: Pediatric Neurology, 37, 3, pp. 212-4
Pediatric Neurology, 37, 212-4مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genetic counseling, Axonal polyneuropathy, Muscular Dystrophies, Developmental Neuroscience, Perception and Action [DCN 1], Medicine, Humans, In patient, Muscular dystrophy, Child, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Molecular analysis, Neurology, Genetic defects of metabolism [UMCN 5.1], Pediatrics, Perinatology and Child Health, Mutation, Congenital muscular dystrophy, Neurology (clinical), Laminin, business, Functional Neurogenomics [DCN 2], Diffuse hypomyelination
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