Results 181 to 190 of about 139,916 (258)

Transcriptomic analysis implicates the involvement of RBM20 in Fuchs' endothelial corneal dystrophy with TCF4 repeat expansion. [PDF]

PLoS One
Zhang X, Yu Z, Westfall AK, Han K, Mootha VV, Xing C.   +5 more
europepmc   +1 more source

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance. [PDF]

Mov Disord
Akçimen F, Alvarez Jerez P, Guliyeva U, Lee J, Malik L, Baker B, Salayev K, Guliyeva S, Billingsley KJ, Houlden H, Singleton AB, Blauwendraat C, Bandres-Ciga S, Kaiyrzhanov R.   +13 more
europepmc   +1 more source

Upper Cervical Cord Area as a Biomarker of Conversion to Secondary Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study assessed whether upper cervical cord area (UCCA) measured on routine brain MRI can serve as a biomarker of conversion to SPMS. Methods This is a single‐center retrospective cohort study of RRMS patients with cross‐sectional and longitudinal analyses of clinical and MRI data. Future SPMS converters were matched by age, sex,
Nabil K. El Ayoubi, Sola Al Ghazal, Salem Hannoun, Medhat A. Siddik, Nour M. Najjar, Jim Dagher, Joseph Abboud, Myriam G. Semaan, Samia J. Khoury   +8 more
wiley   +1 more source

Base editing as a therapeutic strategy for somatic repeat expansion diseases. [PDF]

Nat Genet
Saha K.
europepmc   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman, Niyati Bhandari, Maria Castellaro, Kim Schadt, María Cancio, David R. Lynch   +5 more
wiley   +1 more source

Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. [PDF]

Brain Commun
Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J, Fearnley LG, Ibañez K, Tucci A, Sisodiya SM, Hildebrand MS, Scheffer IE, Courage C, Lehesjoki AE, Giuliano L, Didato G, Franceschetti S, Gecz J, Berkovic SF, Bahlo M.   +21 more
europepmc   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

C9orf72 Repeat Expansion Induces Metabolic Dysfunction in Human iPSC-Derived Microglia and Modulates Glial-Neuronal Crosstalk. [PDF]

Glia
Mearelli M, Hirschberg I, Weissleder C, Giachino C, Pérez MJ, Dubroux M, Provenzano F, Rizzuti M, Ottoboni L, Sheth U, Gendron TF, Corti S, Deleidi M.   +12 more
europepmc   +1 more source