Results 171 to 180 of about 6,611,752 (262)

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Structural and Echocardiographic Abnormalities in Congenital Long QT Syndrome: A Review of the Literature. [PDF]

Medicina (Kaunas)
Markevičiūtė A, Lapinskaitė P, Kovalevska M, Vaitiekienė A, Rinkūnienė D.   +4 more
europepmc   +1 more source

Developing the Dopamine D3 Receptor (D3R) Antagonist, (R)‐VK4‐116, as a Non‐Opioid Medication for the Treatment of Opioid Use Disorder

Medicinal Research Reviews, EarlyView.
ABSTRACT Opioid use disorder (OUD) remains a major global health challenge, and currently approved treatments (methadone, buprenorphine, and naltrexone) are all opioid receptor‐targeting drugs with limitations in access, adherence, stigma, and use in polysubstance use disorders. Because the dopamine D3 receptor (D3R) is enriched in limbic brain regions
Chia‐Kuei Wu, Yu‐Chih Lin, Junfeng Huang, Bangwei Ding, Pramod Terse, Rahul Nandre, Haksong Jin, Molly Congdon, Kun Shen, Philip Sanderson, Gregory Tawa, Stephanie Mounaud, Marta De Santis, Donald Lo, Elizabeth A. Ottinger, Amy Hauck Newman   +15 more
wiley   +1 more source

Long QT Syndrome Type 5 With Coexisting KCNE1 and RYR2 Variants: A Diagnostic Ambiguity. [PDF]

Clin Case Rep
Nikoo MH, Fatemian H, Hassani AH, Rabiee Rad M, Mostafavi S.   +4 more
europepmc   +1 more source

Markov‐Associated Quadratic Stochastic Families and the Susceptible‐Infected‐Recovered (SIR) Model

Mathematical Methods in the Applied Sciences, EarlyView.
ABSTRACT We introduce a Markov‐associated construction for quadratic stochastic families generated by a symmetric cubic stochastic matrix and a finite‐state homogeneous Markov semigroup. The constructed family is not assumed to be a classical quadratic stochastic process of type (A)$$ (A) $$ or type (B)$$ (B) $$; rather, it is a Markov‐associated ...
Taimun Qaisar, Farrukh Mukhamedov, Youssef El‐Khatib, Mahmoud Alhaj Hasan   +3 more
wiley   +1 more source

The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504-1506 in SCN5A gene. [PDF]

BMC Med Genomics
Lu Z, Lin J, Chen Y, Zhou X, Lin L, Zhang X, Wang Q, Huang X.   +7 more
europepmc   +1 more source

QQ‐Based Oxygen Extraction Fraction (OEF) Mapping in Mouse Brain: Initial Experience

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Oxygen extraction fraction (OEF) is a vital biomarker of cerebral oxygen metabolism and tissue viability. A novel OEF mapping method, QQ, which combines quantitative susceptibility mapping (QSM) and quantitative blood oxygen level‐dependent (qBOLD) (QSM + qBOLD = QQ), has demonstrated promise in detecting disease‐related OEF ...
Quinn Boyer, Dongkyu Lee, Tian Qiu, HyungJoon Cho, Junghun Cho   +4 more
wiley   +1 more source

Long QT syndrome and hypoglycemia in a postbariatric surgery patient with a likely pathogenic variant in <i>KCNE1</i>. [PDF]

JCEM Case Rep
Arevalo-Rios ECE, Mateo-Collado R, Kim H, Isganaitis E, Kulkarni RN, Patti ME.   +5 more
europepmc   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal, Katherine A. Dudley, Stacey Sullivan, Kate T. Brizzi, Katherine M. Burke, Sydney Hall, Kiersten Pease, Joshua N. Goldstein, James D. Berry, Doreen T. Ho   +9 more
wiley   +1 more source

Not All "Idiopathic" PVCs Are Benign: Concealed Long QT Syndrome Unmasked by RVOT PVC Ablation. [PDF]

J Arrhythm
Tran KD, Nguyen NDS, Lo LW, Luong SC.
europepmc   +1 more source