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Page 1
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: orthmann murphy j. Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print. Cytotherapy. 2024. PMID: 38613540
Disparities in Genetic Testing for Neurologic Disorders.
Baldwin A, Copeland J, Azage M, Dratch L, Johnson K, Paul RA, Amado DA, Baer M, Deik A, Elman LB, Guo M, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn CC, Tropea TF, Scherer SS, Shinohara RT, Hamilton RH, Ellis CA. Baldwin A, et al. Among authors: orthmann murphy j. Neurology. 2024 Mar 26;102(6):e209161. doi: 10.1212/WNL.0000000000209161. Epub 2024 Mar 6. Neurology. 2024. PMID: 38447117
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Dratch L, et al. Among authors: orthmann murphy j. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. J Neurol. 2024. PMID: 37891417 Free PMC article. Review.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: orthmann murphy jl. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann-Murphy J, Eichler F, Wszolek ZK. Papapetropoulos S, et al. Among authors: orthmann murphy j. Front Neurol. 2022 Feb 3;12:788168. doi: 10.3389/fneur.2021.788168. eCollection 2021. Front Neurol. 2022. PMID: 35185751 Free PMC article. Review.
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Guo MH, Bardakjian TM, Brzozowski MR, Scherer SS, Quinn C, Elman L, Orthmann-Murphy J, Tropea TF, Ellis CA, Gonzalez-Alegre P. Guo MH, et al. Among authors: orthmann murphy j. Am J Med Genet A. 2021 Oct;185(10):2922-2928. doi: 10.1002/ajmg.a.62372. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34075706
Pelizaeus-Merzbacher-Like Disease 1.
Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G. Nahhas N, et al. Among authors: orthmann murphy j. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29276893 Free Books & Documents. Review.
21 results