Results 181 to 190 of about 3,862,863 (318)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Clinical Spectrum of Anti-SEZ6L2 Syndrome: A Case Report With Brain Volumetry and Systematic Literature Review. [PDF]

Neurol Neuroimmunol Neuroinflamm
Habicht JL, Cammá G, Wurdack K, Teegen B, Prüss H, Finke C.   +5 more
europepmc   +1 more source

Trigeminal neuralgia, migraine and sympathetic hyperactivity in a patient with Parry–Romberg syndrome

, 2006
Parry–Romberg syndrome is a rare disorder of unknown aetiology that involves slowly progressive but self-limited wasting of subcutaneous tissues on one side of the face, usually in the distribution of a branch of the trigeminal nerve.
Drummond, P.D., Finch, P.M., Hassard, S.
core  

Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy, Michael Cummings, Eden Price, Yulin Liu, Santiago Gutierrez‐Gomez, Sarah O'Shea, Samuel Frank, Rhoda Au, Ashita S. Gurnani, Ting Fang Alvin Ang, Jesse Mez, Ludy C. Shih   +11 more
wiley   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Retraction Note: Targeting transforming growth factor beta (TGF-β) using Pirfenidone, a potential repurposing therapeutic strategy in colorectal cancer

Scientific Reports
Hamid Jamialahmadi, Seyedeh Elnaz Nazari, Hamid TanzadehPanah, Ehsan Saburi, Fereshteh Asgharzadeh, Fatemeh Khojasteh-Leylakoohi, Maryam Alaei, Mahdi Mirahmadi, Fatemeh Babaei, Seyedeh Zahra Asghari, Saeide Mansouri, Ghazaleh Khalili-Tanha, Mina Maftooh, Hamid Fiuji, Seyed Mahdi Hassanian, Gordon A. Ferns, Majid Khazaei, Amir Avan   +17 more
doaj   +1 more source

Syndrome de Raynaud d’origine médicamenteuse suivant l’amorce d’un traitement par le succinate de métoprolol. [PDF]

CMAJ
Sahoo S, Gavin MC, Cluett JL.
europepmc   +1 more source

Misdiagnosed, misunderstood and missing out: Lynch Syndrome, Australia's untold health story

, 2017
Rice, Toni, O'Neill, Sharron ; https://orcid.org/, Morris, Susan, Fairbank, Beth, Raets, Eve   +4 more
core   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source