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Page 1
Clinical myopathy in patients with nephropathic cystinosis.
Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Duong R, Corre C, David W, Eichler F. Sadjadi R, et al. Among authors: grant n. Muscle Nerve. 2020 Jan;61(1):74-80. doi: 10.1002/mus.26726. Epub 2019 Oct 24. Muscle Nerve. 2020. PMID: 31588568 Free 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. 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. 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. 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. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS. Nagy A, et al. Among authors: grant n. Orphanet J Rare Dis. 2024 Feb 20;19(1):79. doi: 10.1186/s13023-024-03083-3. Orphanet J Rare Dis. 2024. PMID: 38378692 Free PMC article.
321 results