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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: sadjadi r. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.
Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS. Mallack EJ, et al. Among authors: sadjadi r. Neurology. 2020 Jun 16;94(24):e2499-e2507. doi: 10.1212/WNL.0000000000009626. Epub 2020 Jun 1. Neurology. 2020. PMID: 32482842 Free PMC article.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Among authors: sadjadi r. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
Godbole NP, Sadjadi R, DeBono MA, Grant NR, Kelly DC, James PF, Stephen CD, Balkwill MD, Lewis RF, Eichler FS. Godbole NP, et al. Among authors: sadjadi r. Front Neurol. 2021 Jun 17;12:684102. doi: 10.3389/fneur.2021.684102. eCollection 2021. Front Neurol. 2021. PMID: 34220690 Free PMC article.
Restless Legs Syndrome in X-linked adrenoleukodystrophy.
Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS. Winkelman JW, et al. Among authors: sadjadi r. Sleep Med. 2022 Mar;91:31-34. doi: 10.1016/j.sleep.2022.02.008. Epub 2022 Feb 16. Sleep Med. 2022. PMID: 35245789 Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: sadjadi r. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
63 results