2023
When Development of the Alveolar Gas Exchange Unit Fails: Universal Single-Cell Lessons from Rare Monogenic Disorders
Schupp J, Kaminski N. When Development of the Alveolar Gas Exchange Unit Fails: Universal Single-Cell Lessons from Rare Monogenic Disorders. American Journal Of Respiratory And Critical Care Medicine 2023, 208: 652-654. PMID: 37555730, PMCID: PMC10515565, DOI: 10.1164/rccm.202307-1271ed.Commentaries, Editorials and Letters
2020
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation
Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. 2020, 145: e20191490. PMID: 32015180, PMCID: PMC7802010, DOI: 10.1542/peds.2019-1490.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAggressionAntipsychotic AgentsAnxietyAutism Spectrum DisorderCatatoniaChildCompulsive BehaviorCryingDevelopmental DisabilitiesFemaleFrameshift MutationHallucinationsHumansImmunoglobulins, IntravenousImmunosuppressive AgentsImmunotherapyIrritable MoodMethylprednisoloneMutismNerve Tissue ProteinsNeuroprotective AgentsObsessive-Compulsive DisorderRecurrenceSelf CareSleep Initiation and Maintenance DisordersStereotyped BehaviorSyndromeUrinary IncontinenceUrinary RetentionConceptsClinical observationsChronic relapsing coursePeriod of treatmentYears of ageImmunomodulatory treatmentUrinary retentionRelapsing courseNeurologic regressionCase seriesAntipsychotic medicationNeuropsychiatric syndromeMood disordersImmune functionObsessive-compulsive behaviorRare monogenic disordersNeurobehavioral syndromeTranslational investigationsPremorbid levelSHANK3 mutationsPatientsHormonal stimuliMonogenic disordersResponsive phenotypeDevelopmental disabilitiesSyndrome
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