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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE.

Ann Neurol · 2025-07-01

DOI: 10.1002/ana.27272PMID: 40590478

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Open access

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.

Wong KM, Maroofian R, Meier K, Diegmann S, Tkemaladze T, Alvi JR, Tasharrofi B, Efthymiou S, Munchau A, Korenke GC, Almontashiri N, Eyaid W, Kashgari A, Alotaibi M, Gärtner J, Huppke B, Asadollahi M, Chikvinidze G, Keramatipour M, Sultan T, Thiele H, Nürnberg P, Gräler MH, Houlden H, Huppke P.

Mov Disord · 2025-07-01

DOI: 10.1002/mds.30258PMID: 40590574

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Open access

Efficacy and safety of a novel directional deep brain stimulation system from China in the treatment of Parkinson's disease.

Xie H, Wu X, Yu H, Wang G, Wang Z, Zhang J, Cai X, Meng F, Zhang Q, Yang A, Zhu G, Zhang H, Shi L, Jiang Y, Gao D, Xu J, Li J, Geng X, Qiu C, Gao Y, Xu Y, Lu Y, Chen Z, Liu Y, Zhang D, Shao Y, Zhang W, Wang W, Zhang J.

Chin Med J (Engl) · 2025-07-01

DOI: 10.1097/cm9.0000000000003696PMID: 40588800

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

Records come from scientific sources. Bibliographic counts do not represent completed translations or editorial approvals.

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