Articles

• Open Access

  Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

  Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

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  Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)

  Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

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  Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

  Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

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  Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

  Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

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  Duplications at 19q13.33 in patients with neurodevelopmental disorders

  Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

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  CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem

  Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

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  AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?

  Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

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