Journal Papers 781 Related Insights 0
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome 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 Share Save
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 Share Save
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy 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. Share Save
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis 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. Share Save
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy 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 Share Save
Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers 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 Share Save
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults 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. Share Save
Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases 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. Share Save
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy 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. Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
