Results 61 to 70 of about 5,487 (231)

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Lesch–Nyhan syndrome in a female patient: exploring uncommon symptomatology

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Lesch–Nyhan syndrome is a disorder associated with the inadequacy of the hypoxanthine phosphoribosyl-transferase 1 enzyme, which plays a significant role in the purine salvage pathway that leads to urate overproduction and its range of neurological ...
Apeksha Merja, Avinash Khadela, Shruti Soni, Hetvi Bharadia, Vraj B. Shah   +4 more
doaj   +1 more source

PAK1 inhibitor NVS‐PAK1‐1 preserves dendritic spines in amyloid/tau exposed neurons and 5xFAD mice

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Synaptic spine loss in Alzheimer's disease (AD) contributes to cognitive decline. p21‐activated kinase 1 (PAK1), a regulator of spine integrity, is aberrantly activated in AD. We investigated whether PAK1 inhibition might preserve dendritic spines in vitro and in vivo.
Tao Yang, Hasi Huhe, Sean‐Paul Williams, Sukhneet Kaur, Yeonglong Albert Ay, Zachary W. Davis‐Gilbert, Gregory A. Cary, Carolyn Paisie, Robert R. Butler III, Jesse Wiley, Ranjita Betarbet, Haian Fu, Duc Duong, Nicholas T. Seyfried, Karina Leal, Gregory W. Carter, Aled Edwards, Allan I. Levey, Jacob L. Capener, David H. Drewry, Mohammad A. Hossain, Hans J. Oh, Alison D. Axtman, Stacey J. Sukoff Rizzo, Frank M. Longo, The Emory‐Sage‐SGC‐Jax TREAT‐AD Center   +25 more
wiley   +1 more source

A Comprehensive Review of Probiotics in Alleviating Hyperuricemia: Mechanisms, Strain Engineering, and Food Applications

Food Bioengineering, Volume 4, Issue 4, Page 546-563, December 2025.
Screening and modification of probiotics that can efficiently reduce uric acid provide a new strategy for food‐grade hyperuricemia intervention. ABSTRACT Hyperuricemia has become one of the most prevalent global epidemics, significantly impacting both the economy and the health of individuals.
Le Wang, Qi Wu, Mengjia Zhang, Zifu Ni, Pengshuai Zhang, Siyuan Bai, Yibin Wang, Zhongke Sun   +7 more
wiley   +1 more source

Gene structure and expression of serotonin receptor HTR2C in hypothalamic samples from infanticidal and control sows. [PDF]

, 2012
BACKGROUND: The serotonin pathways have been implicated in behavioural phenotypes in a number of species, including human, rat, mouse, dog and chicken.
Bagga, Meenashki, Junaid, Fatima, Moinie, Ahmad, Quilter, Claire R, Sargent, Carole A   +4 more
core   +5 more sources

Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses

Journal of Paediatrics and Child Health, EarlyView.
Briana Davis, Ahmed Kaki, Eppie M. Yiu, Emma Macdonald‐Laurs   +3 more
wiley   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

The creation of transgenic animal “models” for human genetic disease [PDF]

, 1992
Transgenic animals will be created to study human genetic disease as soon as the technological capability exists to do so. Extant laws permit such animals to be created. The mindset of the research community makes it inevitable.
Rollin, Bernard E.
core  

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Bérangère Rousselot‐Pailley, Michaela Semeraro, Fabienne Marquant, Laurence Robel, Cyril Gitiaux, Anna Kaminska, Fanny Mochel, Prissile Bakouboula, Caroline Elie, Carole Hennequin, Irène Ceballos‐Picot, Sylvia Sanquer, Pascale de Lonlay   +12 more
wiley   +1 more source