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419 results

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Page 1
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: reilly mm. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Männikkö R, Pitceathly RDS, Sobreira CFDR, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Marques W. Frezatti RSS, et al. Among authors: reilly mm. Brain Commun. 2024 Nov 14;6(6):fcae342. doi: 10.1093/braincomms/fcae342. eCollection 2024. Brain Commun. 2024. PMID: 39544699 Free PMC article.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: reilly mm. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Record CJ, et al. Among authors: reilly mm. Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print. Ann Neurol. 2024. PMID: 39444079
Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.
Gomathy SB, Priyanka Y, Garg A, Macken WL, Agarwal A, Ahmed T, Bhatia R, Goel V, Garg K, Pitceathly RD, Reilly MM, Hanna MG, Srivastava MP, Vishnu VY. Gomathy SB, et al. Among authors: reilly mm. Ann Indian Acad Neurol. 2024 Sep 1;27(5):524-529. doi: 10.4103/aian.aian_348_24. Epub 2024 Oct 21. Ann Indian Acad Neurol. 2024. PMID: 39428950 Free PMC article.
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.
Muthukumarasamy M, Vijayabala J, Tharmalingam T, Ceravolo G, Zhelcheska K, Houlden H, Davagnanam I, Reilly MM, Lynch DS. Muthukumarasamy M, et al. Among authors: reilly mm. J Neurol Sci. 2024 Nov 15;466:123273. doi: 10.1016/j.jns.2024.123273. Epub 2024 Oct 15. J Neurol Sci. 2024. PMID: 39423596 Free article.
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.
Rehbein T, Purks J, Dilek N, Behrens-Spraggins S, Sowden JE, Eichinger KJ; ACT‐CMT Study Group; Burns J, Pareyson D, Scherer SS, Reilly MM, Shy ME, McDermott MP, Heatwole CR, Herrmann DN. Rehbein T, et al. Among authors: reilly mm. J Peripher Nerv Syst. 2024 Dec;29(4):487-493. doi: 10.1111/jns.12662. Epub 2024 Oct 10. J Peripher Nerv Syst. 2024. PMID: 39390667
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: reilly mm. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
419 results