Articles
- Open AccessSystematic review and meta-analysis of cardiac involvement in mitochondrial myopathyAsfia Quadir, Carly Sabine Pontifex, Helen Lee Robertson, Christopher Labos, Gerald Pfeffer
- Open AccessHuman GABRG2 generalized epilepsyIncreased somatosensory and striatothalamic connectivityMangor Pedersen, Magdalena Kowalczyk, Amir Omidvarnia, Piero Perucca, Samuel Gooley, Steven Petrou, Ingrid E. Scheffer, Samuel F. Berkovic, Graeme D. Jackson
- Open AccessCongenital myopathies in the adult neuromuscular clinicDiagnostic challenges and pitfallsStefan Nicolau, Teerin Liewluck, Jennifer A. Tracy, Ruple S. Laughlin, Margherita Milone
- Open AccessGenome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson diseaseJuan I. Young, Sathesh K. Sivasankaran, Lily Wang, Aleena Ali, Arpit Mehta, David A. Davis, Derek M. Dykxhoorn, Carol K. Petito, Gary W. Beecham, Eden R. Martin, Deborah C. Mash, Margaret Pericak-Vance, William K. Scott, Thomas J. Montine, Jeffery M. Vance
- Open AccessAltered CSF levels of monoamines in hereditary spastic paraparesis 10A case seriesMattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, Göran Solders, Kaj Blennow, Martin Paucar, Per Svenningsson
- Open AccessMAPT p.V363I mutationA rare cause of corticobasal degenerationSarah Ahmed, Monica Diez Fairen, Marya S. Sabir, Pau Pastor, Jinhui Ding, Lourdes Ispierto, Ankur Butala, Christopher M. Morris, Claudia Schulte, Thomas Gasser, Edwin Jabbari, Olga Pletnikova, Huw R. Morris, Juan Troncoso, Ellen Gelpi, Alexander Pantelyat, Sonja W. Scholz
- Open AccessNovel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory featuresAmin Ziaei, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Christof Haffner, Bruno Reversade, Vahid Shaygannejad, Mahmoud A. Pouladi
- Open AccessGenetic risk of Parkinson disease and progression:An analysis of 13 longitudinal cohortsHirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Ganqiang Liu, Jodi Maple-Grødem, Jean-Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, Khanh-Dung H. Nguyen, Jacqueline Rick, Shirley Eberly, Faraz Faghri, Peggy Auinger, Kirsten M. Scott, Ruwani Wijeyekoon, Vivianna M. Van Deerlin, Dena G. Hernandez, Aaron G. Day-Williams, Alexis Brice, Guido Alves, Alastair J. Noyce, Ole-Bjørn Tysnes, Jonathan R. Evans, David P. Breen, Karol Estrada, Claire E. Wegel, Fabrice Danjou, David K. Simon, Bernard Ravina, Mathias Toft, Peter Heutink, Bastiaan R. Bloem, Daniel Weintraub, Roger A. Barker, Caroline H. Williams-Gray, Bart P. van de Warrenburg, Jacobus J. Van Hilten, Clemens R. Scherzer, Andrew B. Singleton, Mike A. Nalls
- Open AccessNew family with HSPB8-associated autosomal dominant rimmed vacuolar myopathySejad Al-Tahan, Lan Weiss, Howard Yu, Sha Tang, Mario Saporta, Anna Vihola, Tahseen Mozaffar, Bjarne Udd, Virginia Kimonis
Clinical/Scientific Notes
- Open AccessMissense mutations in DYT-TOR1A dystoniaZafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft
- Open AccessAdult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencingMartin Krenn, Ivan Milenkovic, Gertrud Eckstein, Fritz Zimprich, Thomas Meitinger, Thomas Foki, Matias Wagner
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