Results 221 to 230 of about 253,299 (294)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, EarlyView.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more sourceBiallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
Annals of Neurology, EarlyView.SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou, Frank Bosmans, Henry Houlden +11 morewiley +1 more sourceBeta Power Response After Levodopa Intake in Parkinson's Disease Patients With Chronic Sensing‐Enabled Deep Brain Stimulation
Annals of Neurology, EarlyView.Objective
In Parkinson's disease (PD), the power of beta oscillations (± 13–30 hertz [Hz]) from subthalamic nucleus (STN) local field potentials (LFPs) is associated with motor symptoms. Beta power can be used for adaptive deep brain stimulation (aDBS) algorithms based upon symptom fluctuations.Martijn G.J. de Neeling, Bart J. Keulen, Mariëlle J. Stam, Deborah Hubers, Rob M.A. de Bie, Bernadette C.M. van Wijk, P. Rick Schuurman, Arthur W.G. Buijink, Martijn Beudel +8 morewiley +1 more sourceClinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation
Annals of Neurology, EarlyView.Objective
To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods
We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring +9 morewiley +1 more sourceBuried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases
Annals of Neurology, EarlyView.Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz +20 morewiley +1 more sourceResilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6
Annals of Neurology, EarlyView.Objective
An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai +10 morewiley +1 more sourceFrom Diagnosis to Disease Staging: Multisite Validation of Cerebrospinal Fluid Molecular Tests in Multiple Sclerosis
Annals of Neurology, EarlyView.Objective
The growing demand for personalized treatment in multiple sclerosis (MS) highlights the need for more precise biomarkers that can outperform magnetic resonance imaging and clinical assessment in patient stratification. Advances in multiplex proteomic technologies suggest that cerebrospinal fluid (CSF) analysis at MS onset may not only improve Laura Ghezzi, Peter Kosa, Mark Greenwood, Enrique Alvarez, C.L. Freedman, Anne H. Cross, Francesca Pace, Mark S. Freedman, Joanna Kocot, Laura Piccio, Bibiana Bielekova +10 morewiley +1 more source
