Articles

• Open Access

  Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

  Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

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  Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome

  Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

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  Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic

  Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

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  Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1

  Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

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  Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

  Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

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  Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

  Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

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  Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease

  Zachary F. Gerring, Eric R. Gamazon, Anthony White, Eske M. Derks

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  Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

  Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

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  Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease

  Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

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