Results 71 to 80 of about 3,376,946 (257)

Two siblings with hiomocystinuria presenting with dystonia and parkinsonism

, 2004
Movement disorders such as dystonia, chorea or tremor are rarely encountered in patients with homocystinuria. We present 2 siblings with laboratory-confirmed homocystinuria, one with severe generalized dystonia and the other with mild parkinsonism.
Vural, M, Ozekmekci, S, Apaydin, H, Ekinci, B   +3 more
core   +1 more source

Neutralization of the PTX3/CD44 axis suppresses TGF‐β1 signaling in kidney fibrosis

FEBS Letters, EarlyView.
This study investigates how the PTX3/CD44 axis promotes kidney fibrosis by activating TGF‐β1 signaling. We demonstrate that the neutralizing antibody WHC‐001 effectively inhibits this pathway, suppressing myofibroblast activation and partial epithelial–mesenchymal transition (EMT).
Chao‐Chun Cheng, Shen‐Shin Chang, Feng‐Wei Chen, Ying‐Chieh Su, Thanh Phuong Nguyen, Yu‐Wei Hsiao, Jhih‐Ying Chi, Hsin‐Yin Liang, Ju‐Ming Wang   +8 more
wiley   +1 more source

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology
We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
doaj   +1 more source

Adult-onset Idiopathic Focal Lower Extremity Dystonia: A Rare Task-Specific Dystonia

Tremor and Other Hyperkinetic Movements, 2013
Background:Adult-onset focal lower extremity (LE) dystonia is rare, but there have recently been a number of case series that have reported an idiopathic variant triggered during ambulation.Methods:We describe nine patients with idiopathic, focal task ...
Ritesh Ramdhani, Steven Frucht
doaj   +1 more source

Examination of sleep disturbances in parkinson’s disease and other movement disorders

From Bedside to Diagnosis: Practical Competencies in Movement Disorders, Volume 10 in the International Review of Movement Disorders, highlights new advances in the field, with this new volume presenting interesting chapters on important topics such as ...
Değirmenci, Yıldız, Diaconu, Stefania, Falup-Pecurariu, Cristian, Murasan, Iulia   +3 more
core   +1 more source

Novel and de Novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia

, 2007
Universidade Federal de São Paulo, Dept Neurol & Neurosurg, Movement Disorders Unit, São Paulo, BrazilAlbert Einstein Coll Med, Dept Mol Genet, Bronx, NY USAUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Movement Disorders Unit, São Paulo ...
Ferraz, Henrique Ballalai [UNIFESP], Ozelius, Laurie J., Aguiar, Patricia de Carvalho [UNIFESP], Borges, Vanderci [UNIFESP]   +3 more
core   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

FEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source

Soft motions encoded by the fold and mediated by conserved hinge sites drive V‐ATPase allosteric machinery and autoinhibition

FEBS Letters, EarlyView.
Vacuolar H+‐ATPase (V‐ATPase) is a multisubunit rotary proton pump that acidifies intracellular compartments. Using elastic network models, we identified conserved hinge residues that govern its large‐scale functional motions. We show that intrinsically encoded ‘soft modes’ drive critical functional transitions, including rotary catalysis and ...
Diksha Parwana, Xiaowei Bogetti, Stuti Sharma, Ivet Bahar   +3 more
wiley   +1 more source

Comparing the paths of Hedgehog release in artificial and natural settings

FEBS Letters, EarlyView.
Hh morphogens require solubilization factors to overcome their tight association with the plasma membrane and signal to distant cells, but the precise functions of these factors are controversial. Here, we use published in vivo observations as the most relevant evidence to test their suggested functions and discuss contradictions and gaps between in ...
Janna Puschmann, Kay Grobe
wiley   +1 more source

Multi-night cortico-basal recordings reveal mechanisms of NREM slow-wave suppression and spontaneous awakenings in Parkinson’s disease

Nature Communications
Sleep disturbance is a prevalent and disabling comorbidity in Parkinson’s disease (PD). We performed multi-night (n = 57) at-home intracranial recordings from electrocorticography and subcortical electrodes using sensing-enabled Deep Brain Stimulation ...
Md Fahim Anjum, Clay Smyth, Rafael Zuzuárregui, Derk Jan Dijk, Philip A. Starr, Timothy Denison, Simon Little   +6 more
doaj   +1 more source