Results 241 to 250 of about 4,144,108 (357)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Reprogramming of liver metabolism during West Nile virus infection unveils novel aspects of disease pathophysiology. [PDF]

Mol Med
Mingo-Casas P, Blázquez AB, Casas J, Esteban A, Escribano-Romero E, Sánchez-Cordón PJ, Jiménez de Oya N, Saiz JC, Martín-Acebes MA.   +8 more
europepmc   +1 more source

Studies on the Oxidative Metabolism of Carbohydrate in Diabetics

, 1957
Yukio Shigeta
openalex   +2 more sources

Creatine and carbohydrate metabolism [PDF]

, 1955
Margery G. Ord, L. A. Stocken
openalex   +1 more source

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim, You‐Ri Kang, Jae‐Won Hyun, Su‐Hyun Kim, Ho Jin Kim   +4 more
wiley   +1 more source

Metabolic reprogramming in melanoma therapy. [PDF]

Cell Death Discov
Shen D, Zhang L, Li S, Tang L.
europepmc   +1 more source

STUDIES IN BONE METABOLISM: THE ETIOLOGY OF NON-PUERPERAL OSTEOMALACIA [PDF]

, 1912
Francis H. McCrudden
openalex   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

A manganese metabolism-related gene signature stratifies prognosis and immunotherapy efficacy in kidney cancer. [PDF]

Discov Oncol
Liu Y, Ye H, Zhang R, Liu X, Liu R.
europepmc   +1 more source

Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +3 more
wiley   +1 more source