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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere, Lauren C; Walker, Melissa A; High, Frances A; Cooper, Cynthia; Rogers, Cassandra A; Callahan, Christine J; Ishimura, Ryosuke; Ichimura, Yoshinobu; Caruso, Paul A; Sharma, Nutan; Brokamp, Elly; Koziura, Mary E; Mohammad, Shekeeb S; Dale, Russell C; Riley, Lisa G; Phillips, John A; Komatsu, Masaaki; Sweetser, David A.
Affiliation
  • Briere LC; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.
  • Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts 02114, USA.
  • High FA; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts 02114, USA.
  • Cooper C; Department of Internal Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Rogers CA; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.
  • Callahan CJ; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
  • Ishimura R; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • Ichimura Y; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • Caruso PA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
  • Koziura ME; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
  • Mohammad SS; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Dale RC; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Westmead, New South Wales 2145, Australia.
  • Komatsu M; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
  • Sweetser DA; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
Cold Spring Harb Mol Case Stud ; 7(3)2021 06.
Article in En | MEDLINE | ID: mdl-33811063
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Ubiquitin-Activating Enzymes Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2021 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Ubiquitin-Activating Enzymes Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2021 Document type: Article Affiliation country: United States Country of publication: United States