Results 111 to 120 of about 157,517 (293)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Clinical Ophthalmology, 2012
Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The purpose of this ...
Rowell HA, Bassuk AG, Mahajan VB
doaj  

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

Neuropsychiatric Disease and Treatment, 2011
Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant ...
Shahien R, Bianchi S, Bowirrat A
doaj  

726 AUTOSOMAL DOMINANT ANTERIOR SEGMENT DYSGENESIS WITH VARIABLE EXPRESSIVITY: PROBABLE LINKAGE TO MNS BLOOD GROUP ON CHROMOSOME 4 [PDF]

, 1981
Helen Mintz Hittner, Robert E. Ferrell, James H. Antoszyk, Frank L. Kretzer, Arnold J. Rudolph   +4 more
openalex   +1 more source

Timing of Changes in Alzheimer's Disease Plasma Biomarkers as Assessed by Amyloid and Tau PET Clocks

Annals of Neurology, EarlyView.
Objective The objective of this study was to evaluate the timing of change of Alzheimer's disease (AD) plasma biomarkers (Aβ42/Aβ40, p‐tau217, p‐tau181, GFAP, and NfL) from six different assay platforms, alongside established AD biomarkers, using amyloid and tau positron emission tomography (PET)‐based AD progression timelines.
Marta Milà‐Alomà, Duygu Tosun, Suzanne E. Schindler, Isabella Hausle, Kellen K. Petersen, Yan Li, Jeffrey L. Dage, Lei Du‐Cuny, Ziad S. Saad, Benjamin Saef, Gallen Triana‐Baltzer, David L. Raunig, Janaky Coomaraswamy, Michael Baratta, Emily A. Meyers, Yulia Mordashova, Carrie E. Rubel, Kyle Ferber, Hartmuth Kolb, Nicholas J. Ashton, Henrik Zetterberg, Erin G. Rosenbaugh, Martin Sabandal, Leslie M. Shaw, Anthony W. Bannon, William Z. Potter, for the Alzheimer's Disease Neuroimaging Initiative (ADNI), Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium Plasma Aβ and Phosphorylated Tau as Predictors of Amyloid and Tau Positivity in Alzheimer's Disease Project Team   +27 more
wiley   +1 more source

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj  

Autosomal dominant juvenile onset glaucoma affecting six generations in an Edinburgh family [PDF]

, 1986
Brian W. Fleck, J F Cullen
openalex   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

Framework for assessing the risk to a field from fraudulent researchers: A case study of Alzheimer's disease

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Concerns over research integrity are rising, with increasing attention to potential threats from untrustworthy authors. We established a framework to gauge the potential negative influence of researchers potentially engaged in misconduct. The field of Alzheimer's disease (AD) research has been a focal point of these worries. This study aims to
Chaoqun Ni, B. Ian Hutchins
wiley   +1 more source