Results 141 to 150 of about 13,652 (256)

A Personal Exploration of Oral Health in Amyotrophic Lateral Sclerosis (ALS) Through the Eyes of a Multifaceted Authority

Journal of Oral Rehabilitation, EarlyView.
This study resulted in agendas to improve oral health care, research, and education, advocating for a shift in ALS oral health care: from neglect to proactive integration. ABSTRACT Background and Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that impairs motor function, including oral musculature, complicating
Merel C. Verhoeff, Maurits K. A. van Selms, Frank Lobbezoo   +2 more
wiley   +1 more source

Comparison of the effect of intra-dermal injection of botulinum toxin and normal saline in the treatment of facial skin pores

Journal of Family Medicine and Primary Care
Background and Purpose: Skin pores (SPs) are normal and benign skin structures that are mostly located on the face (nose, cheeks, etc.) that cause many aesthetic concerns or complaints.
Nader Pazyar, Saeed Ashoori, Atefeh Mahdianrad, Maryam Seyedtabib   +3 more
doaj   +1 more source

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center [PDF]

, 2011
Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular ...
Calado, E, Duarte, S, Rodrigues, R, Sequeira, S   +3 more
core  

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Smartphone video-based early diagnosis of blepharospasm using dual cross-attention modeling enhanced by facial pose estimation

npj Digital Medicine
Blepharospasm is a focal dystonia characterized by involuntary eyelid contractions that impair vision and social function. The subtle clinical signs of blepharospasm make early and accurate diagnosis difficult, delaying timely intervention. In this study,
Shenyu Huang, Boyuan Yang, Xiaoling Huang, Huina Zhang, Dong Luo, Guanchao Tong, Yijie Wang, Yongqing Shao, Menglu Chen, Qi Gao, Juan Ye   +10 more
doaj   +1 more source

Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 324-331, February 2026.
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong, Shasha Yu, Jing Zhang, Yu Zu, Yujing Zhang, Jing Lv, Xuyang Cao, Xuedan Feng   +7 more
wiley   +1 more source

Reply to: “Moving Forward in Movement Disorders: The Need for Studies on Environmental Triggers”

Movement Disorders, EarlyView.
Lisa Harder‐Rauschenberger, Chi Wang Ip   +1 more
wiley   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 511-517, February 2026.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Executive Impairment in Huntington's Disease: Insights From a Systematic Review of the Literature

Brain and Behavior, Volume 16, Issue 2, February 2026.
Executive dysfunction in Huntington's disease follows a selective, stage‐dependent pattern, with early deficits in psychomotor speed, cognitive flexibility, inhibition, and working‐memory updating. Progression is associated with broader impairments in planning and attention.
Simone Migliore, Martina Marcaccio, Ilaria Di Pompeo, Massimo Marano, Giuseppe Curcio   +4 more
wiley   +1 more source