{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T18:46:06Z","timestamp":1773254766456,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000098","name":"Clinical Center","doi-asserted-by":"publisher","award":["R01NS069719"],"award-info":[{"award-number":["R01NS069719"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006812","name":"Center for Integrated Healthcare, U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["101 CX001702"],"award-info":[{"award-number":["101 CX001702"]}],"id":[{"id":"10.13039\/100006812","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Most published reports on\n                      <jats:italic>SAMD9L<\/jats:italic>\n                      \u2010related ataxia\u2010pancytopenia syndrome (ATXPC) have emphasized the hematologic findings. Fewer details are known about the progression of neurologic manifestations and methods for monitoring them.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We present six individuals from two families transmitting a heterozygous variant in\n                      <jats:italic>SAMD9L<\/jats:italic>\n                      , exhibiting clinical variations in their hematologic and neurologic findings. Serial motor function testing was used to monitor motor proficiency over a 2 to 3\u2009year period in the proband and his father from Family 1.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our case series focuses on the neurologic progression in patients with heterozygous variants in\n                      <jats:italic>SAMD9L<\/jats:italic>\n                      . Patients with ATXPC should be followed to evaluate a wide range of neurologic manifestations. Serial motor function testing using a standardized method is helpful to track changes in balance and coordination in children and adults with ATXPC and could aid in a future extended natural history study.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.14038","type":"journal-article","created":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:49:41Z","timestamp":1712710181000},"page":"728-733","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessing Long\u2010Term Neurologic Outcomes in\n                    <scp>\n                      <i>SAMD9L<\/i>\n                    <\/scp>\n                    \u2010Related Ataxia\u2010Pancytopenia Syndrome"],"prefix":"10.1002","volume":"11","author":[{"given":"Carla D.","family":"Zingariello","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Florida College of Medicine  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Hui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy H.","family":"Raskind","sequence":"additional","affiliation":[{"name":"Department of Medicine\/Medical Genetics University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William B.","family":"Slayton","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida College of Medicine  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sub","family":"Subramony","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Florida College of Medicine  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Severance","sequence":"additional","affiliation":[{"name":"UF Health Rehab Center for Kids at Magnolia Parke, University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Feagle","sequence":"additional","affiliation":[{"name":"UF Health Rehab Center for Kids at Magnolia Parke, University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90744-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.009"},{"key":"e_1_2_7_4_1","unstructured":"RaskindWH ChenDH BirdT. SAMD9L Ataxia\u2010Pancytopenia Syndrome. 2017 Jun 1 [Updated 2021 Feb 4]. In: Adam MP Feldman J Mirzaa GM et al. editors.GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20102024. Available from:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK435692\/"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-018-0074-4"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-743302"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121086"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122356"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2023.283591"},{"key":"e_1_2_7_10_1","unstructured":"https:\/\/www.pearsonassessments.com\/store\/usassessments\/en\/Store\/Professional\u2010Assessments\/Motor\u2010Sensory\/Bruininks\u2010Oseretsky\u2010Test\u2010of\u2010Motor\u2010Proficiency\u2010%7C\u2010Second\u2010Edition\/p\/100000648.html"},{"key":"e_1_2_7_11_1","unstructured":"https:\/\/www.physio-pedia.com\/Scale_for_the_Assessment_and_Rating_of_Ataxia_(SARA)"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.180778"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000183"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-021-01511-6"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.14038","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.14038","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.14038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T01:25:40Z","timestamp":1773192340000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.14038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,9]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/mdc3.14038"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.14038","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,9]]},"assertion":[{"value":"2023-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}