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Page 1
A draft conceptual model of SLC6A1 neurodevelopmental disorder.
Goodspeed K, Mosca LR, Weitzel NC, Horning K, Simon EW, Pfalzer AC, Xia M, Langer K, Freed A, Bone M, Picone M, Bichell TJV. Goodspeed K, et al. Among authors: pfalzer ac. Front Neurosci. 2023 Jan 19;16:1026065. doi: 10.3389/fnins.2022.1026065. eCollection 2022. Front Neurosci. 2023. PMID: 36741059 Free PMC article.
A disease concept model for STXBP1-related disorders.
Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, Cosico M, Steinberg J, Goss J, Pfalzer AC, Horning KJ, Weitzel N, Corey S, Conway L, Rigby CS, Bichell TJ, Helbig I. Sullivan KR, et al. Among authors: pfalzer ac. Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27. Epilepsia Open. 2023. PMID: 36625631 Free PMC article.
Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases.
Pullen LC, Bott N, McCanless C, Revana A, Sevinc G, Gorman C, Duncan A, Poliquin S, Pfalzer AC, Schmidt KQ, Wassman ER, Chapman C, Picone M. Pullen LC, et al. Among authors: pfalzer ac. Clocks Sleep. 2024 Nov 5;6(4):656-667. doi: 10.3390/clockssleep6040044. Clocks Sleep. 2024. PMID: 39584973 Free PMC article.
Coping with Huntington's Disease in Patients and At-Risk Individuals.
Snow ALB, Ciriegio AE, Watson KH, Baumann MG, Pfalzer AC, Diehl S, Duncan K, McDonell KE, Claassen DO, Compas BE. Snow ALB, et al. Among authors: pfalzer ac. J Huntingtons Dis. 2024;13(3):339-347. doi: 10.3233/JHD-240027. J Huntingtons Dis. 2024. PMID: 39150832 Free PMC article.
Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
Pfalzer AC, Ivers B, Haynam A, Drake B, Koolen DA, Kasri NN, de Vries BBA, Mefford HC, Morgan A, Bichell TJ, Simon E, Terala A, Myers KA, Point A. Pfalzer AC, et al. Ther Adv Rare Dis. 2024 Jul 28;5:26330040241265414. doi: 10.1177/26330040241265414. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 39081270 Free PMC article. Review.
Impairments to executive function in emerging adults with Huntington disease.
Pfalzer AC, Watson KH, Ciriegio AE, Hale L, Diehl S, McDonell KE, Vnencak-Jones C, Huitz E, Snow A, Roth MC, Guthrie CS, Riordan H, Long JD, Compas BE, Claassen DO. Pfalzer AC, et al. J Neurol Neurosurg Psychiatry. 2023 Feb;94(2):130-135. doi: 10.1136/jnnp-2022-329812. Epub 2022 Nov 30. J Neurol Neurosurg Psychiatry. 2023. PMID: 36450478
33 results