المؤلفون: BRUNETTI PIERRI, NICOLA, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham H, Lee B, Shinawi M, Shen J, Kang S. HL, Pursley A, Lotze T, Kennedy G, Lansky Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong C. T, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung S. W, Patel A.

المساهمون: BRUNETTI PIERRI, Nicola, Berg, J, Scaglia, F, Belmont, J, Bacino, Ca, Sahoo, T, Lalani, Sr, Graham, H, Lee, B, Shinawi, M, Shen, J, Kang S., Hl, Pursley, A, Lotze, T, Kennedy, G, Lansky Shafer, S, Weaver, C, Roeder, Er, Grebe, Ta, Arnold, Gl, Hutchison, T, Reimschisel, T, Amato, S, Geragthy, Mt, Innis, Jw, Obersztyn, E, Nowakowska, B, Rosengren, S, Bader, Pi, Grange, Dk, Naqvi, S, Garnica, Ad, Bernes, Sm, Fong, C. T., Summers, A, Walters, Wd, Lupski, Jr, Stankiewicz, P, Cheung, S. W., Patel, A.

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::317718ef8afc345231a669dc41259ca0
http://hdl.handle.net/11588/363126

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المؤلفون: Walters WD; From the Section of Pediatric Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Garnica AD; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Schaefer GB; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address: SchaeferGB@uams.edu.

المصدر: Seminars in pediatric neurology [Semin Pediatr Neurol] 2018 Jul; Vol. 26, pp. 50-51. Date of Electronic Publication: 2017 Apr 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9441351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-0776 (Electronic) Linking ISSN: 10719091 NLM ISO Abbreviation: Semin Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type V/*diagnosis , Glycogen Storage Disease Type V/*genetics , Myalgia/*diagnosis , Myalgia/*genetics, Adolescent ; Diagnosis, Differential ; Female ; Genetic Testing ; Glycogen Storage Disease Type V/physiopathology ; Humans ; Myalgia/etiology ; Myalgia/physiopathology ; Exome Sequencing

المؤلفون: Gupta HV; Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR, 72205, USA. dr.harshgupta@gmail.com., Ramakrishnaiah RH; Department of Radiology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR, 72205, USA. raghuhr@uams.edu., Sharp GB; Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR, 72205, USA. sharpgregoryb@uams.edu., Lee RW; Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR, 72205, USA. rlee2@uams.edu., Walters WD; Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR, 72205, USA. walterswilliamd@uams.edu.

المصدر: Acta neurologica Belgica [Acta Neurol Belg] 2015 Dec; Vol. 115 (4), pp. 783-5. Date of Electronic Publication: 2015 Apr 03.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

مواضيع طبية MeSH: Video Recording*, Chorea/*complications , Dystonia/*complications , Myoclonus/*complications , Olivopontocerebellar Atrophies/*complications, Brain/pathology ; Child ; Humans ; Magnetic Resonance Imaging ; Male

SCR Disease Name: Pontocerebellar Hypoplasia Type 2

المؤلفون: Mulkey SB; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas 72202-3591, USA. mulkeysarah@uams.edu, Glasier CM, El-Nabbout B, Walters WD, Ionita C, McCarthy MH, Sharp GB, Shbarou RM

المصدر: Pediatric neurology [Pediatr Neurol] 2010 Oct; Vol. 43 (4), pp. 263-9.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Guillain-Barre Syndrome/*pathology , Spinal Nerve Roots/*pathology, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Lumbar Vertebrae ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Young Adult

المؤلفون: Brunetti-Pierri N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A

المصدر: Nature genetics [Nat Genet] 2008 Dec; Vol. 40 (12), pp. 1466-71.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 1/*genetics , Craniofacial Abnormalities/*genetics , Mental Disorders/*genetics , Microcephaly/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Schizophrenia/genetics ; Young Adult

المؤلفون: Kern F; Department of Chemistry, University of Rochester., Walters WD

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 1952 Nov; Vol. 38 (11), pp. 937-42.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Print ISSN: 0027-8424 (Print) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: PubMed not MEDLINE