Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

  1. Pelletier, F. 123456
  2. Perrier, S. 14
  3. Cayami, F.K. 78
  4. Mirchi, A. 12345
  5. Saikali, S. 9
  6. Tran, L.T. 1234
  7. Ulrick, N. 10
  8. Guerrero, K. 1234
  9. Rampakakis, E. 2
  10. Van Spaendonk, R.M.L. 11
  11. Naidu, S. 12
  12. Pohl, D. 13
  13. Gibson, W.T. 14
  14. Demos, M. 15
  15. Goizet, C. 16
  16. Tejera-Martin, I. 17
  17. Potic, A. 18
  18. Fogel, B.L. 19
  19. Brais, B. 1320
  20. Sylvain, M. 21
  21. Sébire, G. 222
  22. Lourenço, C.M. 23
  23. Bonkowsky, J.L. 24
  24. Catsman-Berrevoets, C. 25
  25. Pinto, P.S. 26
  26. Tirupathi, S. 27
  27. Strømme, P. 28
  28. De Grauw, T. 29
  29. Gieruszczak-Bialek, D. 3031
  30. Krägeloh-Mann, I. 32
  31. Mierzewska, H. 33
  32. Philippi, H. 34
  33. Rankin, J. 35
  34. Atik, T. 36
  35. Banwell, B. 10
  36. Benko, W.S. 37
  37. Blaschek, A. 38
  38. Bley, A. 39
  39. Boltshauser, E. 40
  40. Bratkovic, D. 41
  41. Brozova, K. 42
  42. Cimas, I. 43
  43. Clough, C. 44
  44. Corenblum, B. 45
  45. Dinopoulos, A. 46
  46. Dolan, G. 47
  47. Faletra, F. 48
  48. Fernandez, R. 49
  49. Fletcher, J. 50
  50. Garcia Garcia, M.E. 51
  51. Gasparini, P. 52
  52. Gburek-Augustat, J. 53
  53. Gonzalez Moron, D. 54
  54. Hamati, A. 55
  55. Harting, I. 56
  56. Hertzberg, C. 57
  57. Hill, A. 58
  58. Hobson, G.M. 59
  59. Innes, A.M. 45
  60. Kauffman, M. 60
  61. Kirwin, S.M. 61
  62. Kluger, G. 62
  63. Kolditz, P. 63
  64. Kotzaeridou, U. 56
  65. La Piana, R. 64
  66. Liston, E. 65
  67. McClintock, W. 6667
  68. McEntagart, M. 68
  69. McKenzie, F. 6970
  70. Melançon, S. 71
  71. Misbahuddin, A. 72
  72. Suri, M. 73
  73. Monton, F.I. 17
  74. Moutton, S. 74
  75. Murphy, R.P.J. 75
  76. Nickel, M. 39
  77. Onay, H. 76
  78. Orcesi, S. 77
  79. Özklnay, F. 78
  80. Patzer, S. 79
  81. Pedro, H. 80
  82. Pekic, S. 81
  83. Pineda Marfa, M. 82
  84. Pizzino, A. 1083
  85. Plecko, B. 84
  86. Poll-The, B.T. 85
  87. Popovic, V. 86
  88. Rating, D. 56
  89. Rioux, M.-F. 87
  90. Rodriguez Espinosa, N. 17
  91. Ronan, A. 88
  92. Ostergaard, J.R. 89
  93. Rossignol, E. 90
  94. Sanchez-Carpintero, R. 91
  95. Schossig, A. 92
  96. Senbil, N. 93
  97. Sønderberg Roos, L.K. 94
  98. Stevens, C.A. 95
  99. Synofzik, M. 96
  100. Sztriha, L. 97
  101. Tibussek, D. 98
  102. Timmann, D. 99
  103. Tonduti, D. 100
  104. Van De Warrenburg, B.P. 101
  105. Vázquez-López, M. 102
  106. Venkateswaran, S. 103
  107. Wasling, P. 104
  108. Wassmer, E. 105
  109. Webster, R.I. 106
  110. Wiegand, G. 107108
  111. Yoon, G. 65
  112. Rotteveel, J. 11
  113. Schiffmann, R. 109
  114. Van Der Knaap, M.S. 711
  115. Vanderver, A. 10110
  116. Martos-Moreno, G.Á. 111112113
  117. Polychronakos, C. 114
  118. Wolf, N.I. 7
  119. Bernard, G. 12345
  120. Show all authors +
  1. 1 McGill University
    info

    McGill University

    Montreal, Canadá

    ROR https://ror.org/01pxwe438

  2. 2 Department of Pediatrics, McGill University
  3. 3 Department of Human Genetics, McGill University
  4. 4 Child Health and Human Development Program, Research Institute, McGill University Health Centre
  5. 5 McGill University Health Centre
    info

    McGill University Health Centre

    Montreal, Canadá

    ROR https://ror.org/04cpxjv19

  6. 6 Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal
  7. 7 Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam
  8. 8 Center of Biomedical Research, Faculty of Medicine, Diponegoro University
  9. 9 Department of Pathology, Centre Hospitalier, Universitaire de Québec
  10. 10 Children's Hospital of Philadelphia
    info

    Children's Hospital of Philadelphia

    Filadelfia, Estados Unidos

    ROR https://ror.org/01z7r7q48

  11. 11 VU University Amsterdam
    info

    VU University Amsterdam

    Ámsterdam, Holanda

    ROR https://ror.org/008xxew50

  12. 12 Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions
  13. 13 Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa
  14. 14 Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute
  15. 15 Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital
  16. 16 Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, Laboratoire MRGM, Université de Bordeaux
  17. 17 Hospital Universitario Nuestra Señora de Candelaria
    info

    Hospital Universitario Nuestra Señora de Candelaria

    Santa Cruz de Tenerife, España

    ROR https://ror.org/005a3p084

  18. 18 University of Belgrade
    info

    University of Belgrade

    Belgrado, Serbia

    ROR https://ror.org/02qsmb048

  19. 19 David Geffen School of Medicine at UCLA
    info

    David Geffen School of Medicine at UCLA

    Los Ángeles, Estados Unidos

  20. 20 Montreal Neurological Institute and Hospital
    info

    Montreal Neurological Institute and Hospital

    Montreal, Canadá

    ROR https://ror.org/05ghs6f64

  21. 21 Centre Mère Enfant, CHU de Québec
  22. 22 Université de Sherbrooke
    info

    Université de Sherbrooke

    Sherbrooke, Canadá

    ROR https://ror.org/00kybxq39

  23. 23 Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto
  24. 24 Department of Pediatrics, University of Utah, School of Medicine
  25. 25 Department of Paediatric Neurology, Erasmus University Hospital, Sophia Children's Hospital
  26. 26 Neuroradiology Department, Centro Hospitalar Do Porto
  27. 27 Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children
  28. 28 Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, University of Oslo
  29. 29 Emory University School of Medicine
    info

    Emory University School of Medicine

    Atlanta, Estados Unidos

  30. 30 Department of Medical Genetics, Children's Memorial Health Institute
  31. 31 Department of Pediatrics, Medical University of Warsaw
  32. 32 Department of Child Neurology, University Children's Hospital Tübingen
  33. 33 Department of Child and Adolescent Neurology, Institute of Mother and Child
  34. 34 Center of Developmental Neurology (SPZ Frankfurt Mitte)
  35. 35 Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust
  36. 36 Division of Genetics, Department of Pediatrics, School of Medicine, Ege University
  37. 37 Division of Pediatric Neurology, Department of Neurology, UC Davis Health System
  38. 38 Klinikum der Universität München
    info

    Klinikum der Universität München

    Múnich, Alemania

    ROR https://ror.org/02jet3w32

  39. 39 University Medical Center Hamburg-Eppendorf
    info

    University Medical Center Hamburg-Eppendorf

    Hamburgo, Alemania

    ROR https://ror.org/01zgy1s35

  40. 40 Department of Child Neurology, University Children's Hospital Zurich
  41. 41 Metabolic Clinic, Women's and Children's Hospital
  42. 42 Department of Child Neurology, Thomayers Hospital
  43. 43 Hospital POVISA
    info

    Hospital POVISA

    Vigo, España

    ROR https://ror.org/043m85342

  44. 44 Department of Neurology, King's College Hospital
  45. 45 University of Calgary
    info

    University of Calgary

    Calgary, Canadá

    ROR https://ror.org/03yjb2x39

  46. 46 National and Kapodistrian University of Athens
    info

    National and Kapodistrian University of Athens

    Atenas, Grecia

    ROR https://ror.org/04gnjpq42

  47. 47 Bristow Pediatrics
  48. 48 Institute for Maternal and Child Health, IRCCS Burlo Garofolo
  49. 49 Pediatric Neurology Associates
  50. 50 Genetics and Molecular Pathology, Women's and Children's Hospital
  51. 51 Department of Neurology, Royal London Hospital
  52. 52 Institute for Maternal and Child Health, IRCCS Burlo Garofolo
  53. 53 Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig
  54. 54 Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia
  55. 55 Indiana University – Purdue University Indianapolis
    info

    Indiana University – Purdue University Indianapolis

    Indianápolis, Estados Unidos

    ROR https://ror.org/05gxnyn08

  56. 56 University Hospital Heidelberg
    info

    University Hospital Heidelberg

    Heidelberg, Alemania

    ROR https://ror.org/013czdx64

  57. 57 Department of Child Neurology, Vivantes Klinikum
  58. 58 University of British Columbia
    info

    University of British Columbia

    Vancouver, Canadá

    ROR https://ror.org/03rmrcq20

  59. 59 Nemours Biomedical Research, Nemours/Alfred I. DuPont Hospital for Children
  60. 60 Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia
  61. 61 Molecular Diagnostics Laboratory, Nemours/Alfred I. DuPont Hospital for Children
  62. 62 PMU Salzburg, Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth
  63. 63 Department of Child Neurology, Kantonsspital Luzern
  64. 64 Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University
  65. 65 Hospital for Sick Children
    info

    Hospital for Sick Children

    Toronto, Canadá

    ROR https://ror.org/057q4rt57

  66. 66 Pediatric Specialists of Virginia
  67. 67 Department of Neurology, Children's National Medical Center
  68. 68 South West Thames Regional Genetics Service, St. George's Hospital
  69. 69 Genetic Services of Western Australia
  70. 70 University of Western Australia
    info

    University of Western Australia

    Perth, Australia

    ROR https://ror.org/047272k79

  71. 71 Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital
  72. 72 Essex Centre for Neurological Sciences, Queen's Hospital
  73. 73 Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust
  74. 74 Service de Génétique Médicale, CHU de Bordeaux
  75. 75 Department of Neurology, Tallaght University Hospital
  76. 76 Department of Medical Genetics, Ege University
  77. 77 Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation
  78. 78 Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University
  79. 79 Children's Hospital St. Elisabeth and St. Barbara
  80. 80 Department of Pediatrics, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center
  81. 81 Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade and School of Medicine, University of Belgrade
  82. 82 Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2
  83. 83 Department of Genetics, MetroHealth Hospital
  84. 84 Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz
  85. 85 Department of Pediatric Neurology, Emma Children's Hospital
  86. 86 Medical Faculty, University of Belgrade
  87. 87 Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont
  88. 88 University of Newcastle Australia
    info

    University of Newcastle Australia

    Newcastle, Australia

    ROR https://ror.org/00eae9z71

  89. 89 Aarhus University Hospital
    info

    Aarhus University Hospital

    Århus, Dinamarca

    ROR https://ror.org/040r8fr65

  90. 90 Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal
  91. 91 Universidad de Navarra
    info

    Universidad de Navarra

    Pamplona, España

    ROR https://ror.org/02rxc7m23

  92. 92 University of Innsbruck
    info

    University of Innsbruck

    Innsbruck, Austria

    ROR https://ror.org/054pv6659

  93. 93 Department of Child Neurology, Klrlkkale University Medical Faculty
  94. 94 Copenhagen University Hospital
    info

    Copenhagen University Hospital

    Copenhague, Dinamarca

    ROR https://ror.org/05bpbnx46

  95. 95 Department of Pediatrics, Division of Medical Genetics, University of Tennessee, College of Medicine
  96. 96 Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Centre of Neurology, German Research Center for Neurodegenerative Diseases, University of Tübingen
  97. 97 Department of Paediatrics, University of Szeged
  98. 98 Department of General Pediatrics Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University
  99. 99 Essen University Hospital
    info

    Essen University Hospital

    Essen, Alemania

    ROR https://ror.org/02na8dn90

  100. 100 Child Neurology Unit, V. Buzzi Children's Hospital
  101. 101 Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre
  102. 102 Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón
  103. 103 Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario
  104. 104 Department of Neuroscience and Rehabilitation, Sahlgrenska Academy, University of Gothenburg
  105. 105 Paediatric Neurology, Birmingham Children's Hospital
  106. 106 T. Y. Nelson Department of Neurology and Neurosurgery, Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead
  107. 107 Department of Pediatric Neurology, University Hospital Kiel
  108. 108 Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg
  109. 109 Institute of Metabolic Disease, Baylor Scott and White Research Institute
  110. 110 Department of Neurology, Perelman School of Medicine, University of Pennsylvania
  111. 111 Hospital Universitario de la Princesa
    info

    Hospital Universitario de la Princesa

    Madrid, España

    ROR https://ror.org/03cg5md32

  112. 112 Universidad Autónoma de Madrid
    info

    Universidad Autónoma de Madrid

    Madrid, España

    ROR https://ror.org/01cby8j38

  113. 113 Instituto de Salud Carlos III
    info

    Instituto de Salud Carlos III

    Madrid, España

    ROR https://ror.org/00ca2c886

  114. 114 Division of Endocrinology, Montreal Children's Hospital, Endocrine Genetics Lab, Research Institute, McGill University Health Centre
Journal:
Journal of Clinical Endocrinology and Metabolism

ISSN: 1945-7197

Year of publication: 2021

Volume: 106

Issue: 2

Pages: E660-E674

Type: Article

DOI: 10.1210/CLINEM/DGAA700 PMID: 33005949 SCOPUS: 2-s2.0-85097520880 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus