Results 291 to 300 of about 1,010,075 (360)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Psychometric Properties of the Greek Version of the Perinatal Anxiety Screening Scale. [PDF]

Cureus
Dagla M, Mrvoljak-Theodoropoulou I, Daglas V, Antoniou E, Mouchtari I, Dagla C, Sotiropoulou D, Tsolaridou E, Karagianni D.   +8 more
europepmc   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Cost-Effectiveness of a Digital Leakage Notification System (Heylo™) for People with Ileostomies or Colostomies in the United Kingdom. [PDF]

Pharmacoeconomics
Boisen EB, Cawson M, de Fries Jensen L, Mealing S, van Hest N.   +4 more
europepmc   +1 more source

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology, EarlyView.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou, Frank Bosmans, Henry Houlden   +11 more
wiley   +1 more source

Climate change worry and the association with future depression and anxiety: cross-national analysis of 11 European countries. [PDF]

BMJ Ment Health
Collery A, Niedzwiedz CL.
europepmc   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

Annals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard   +6 more
wiley   +1 more source

Factors Associated With Dementia Worry Among Middle-Aged or Older Adults Living in a Japanese Community: A Cross-Sectional Study. [PDF]

Int J Ment Health Nurs
Nakayama A, Hoshino J, Usami R, Saeki K, Sakurai M, Takikawa M, Furukawa N.   +6 more
europepmc   +1 more source