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Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome PTEN错构瘤综合征的神经发育和神经病学表现 Dhawan, Andrew; Liu, Darren; Baitamouni, Sarah; Anthony, Kristin; Srivastava, Siddharth; Hardan, Antonio Y.; Uljarevic, Mirko; Lachlan, Katherine L.; Frazier, Thomas W.; Busch, Robyn M.; Eng, Charis 分享 收藏
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant Mild Clinical and MRI Findings Kakumoto, Toshiyuki; Matsukawa, Takashi; Tokimura, Ryo; Tsuboyama, Yoko; Hayashi, Yasufumi; Mitsutake, Akihiko; Iwata, Atsushi; Maeda, Meiko Hashimoto; Shimizu, Jun; Gonoi, Wataru; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi 分享 收藏
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy 研究睾酮和重组人生长激素在面肩肱型肌营养不良中的作用 Heatwole, Chad Rydel; Luebbe, Elizabeth; Hamel, Johanna; Mongiovi, Phillip C.; Ciafaloni, Emma; Dilek, Nuran; Martens, William B.; Weber, David R.; Rashid, Hani; Allen McKeown, Jamie; Smith, Claire H.; Howell, Samantha; Rosero, Spencer Z.; Eichinger, Katy; Baker, Lindsay S.; Dekdebrun, Jeanne M.; Hilbert, James E.; Varma, Anika; Thornton, Charles A.; McDermott, Michael P.; Moxley III, Richard T. 分享 收藏
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis p.Val142Ile (Val122Ile)变异型遗传性甲状腺素运载蛋白介导的淀粉样变性周围神经病变 Zhang, Victor Jia Wei; O'Donnell, Luke F.; Skorupinska, Mariola; Carganillo, Roy; Rossor, Alexander M.; Fontana, Marianna; Rowczenio, Dorota; Gilbertson, Janet; Gillmore, Julian D.; Reilly, Mary M. 分享 收藏
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy SMA患者队列中SMN1基因的单核苷酸变异 Rimoldi, Martina; Magri, Francesca; Meneri, Megi; Gagliardi, Delia; Ada Sansone, Valeria; Albamonte, Emilio; Ottoboni, Linda; Comi, Giacomo Pietro; Mercuri, Eugenio; Tiziano, Francesco Danilo; Ronchi, Dario; Corti, Stefania 分享 收藏
Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers 女性Dystrophinopathy携带者全身骨骼肌MRI模式 Vigliano, Alejandra P.; Luce, Leonela; Pastor Rueda, Jose Manuel; Chaves, Hernan; Mesa, Lilia; Carcione, Micaela; Mazzanti, Chiara; Llames Massini, Carmen; Radic, Claudia Pamela; Cejas, Claudia; Giliberto, Florencia 分享 收藏
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults 脑白质高信号遗传架构在多样化西班牙裔/拉丁裔成年人中的研究 Fornage, Myriam; Xia, Rui; Ordonez, Adriana; Sofer, Tamar; Isasi, Carmen R.; Lipton, Richard B.; Stickel, Ariana M.; Tarraf, Wassim; Gonzalez, Hector M.; Decarli, Charles S. 分享 收藏
Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases 儿童交替性偏瘫及ATP1A3相关疾病 Simpson, Alexander J.; McLellan, Ailsa; Behl, Katherine Elizabeth; Brown, Jo; Clapcote, Steven J.; Cross, J. Helen; van den Maagdenberg, Arn M. J. M.; Vezyroglou, Aikaterini None; Balestrini, Simona; Sisodiya, Sanjay M. 分享 收藏
Association of the Recurrent ATP1A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function 复发性ATP1A1变异p.Gly549Arg与中间型CMT及Na,K-ATPase功能丧失的关联 Spontarelli Fruit, Kerri; Olivera, J. Fernando; Colmano, Nicolas; Bird, Shawn J.; McCray, Brett A.; Yano, Sho T.; Scherer, Steven S.; Artigas, Pablo 分享 收藏
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy LMNB1相关常染色体显性遗传性白质脑病的诊断、管理与监测临床实践指南 Dhamija, Radhika; Tobin, W. Oliver; Cortelli, Pietro; Padiath, Quasar; Muthusamy, Karthik; Singh Sekhon, Ujjal Didar; Singh, Bishen Jeet; Harris, Dan; Billings, Heather; Mamillo, Keti; Appleberry, Holly; Giorgio, Elisa; Ratti, Stefano; Fogel, Brent L.; Gavrilova, Ralitza; Raininko, Raili; Cousin, Margot A. 分享 收藏
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