Results 101 to 110 of about 10,730,025 (313)

Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype–Phenotype Correlations

Current Issues in Molecular Biology
Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants.
Vito Spagnuolo, Marco Piergentili, Ilaria Passerini, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Martina Maccari, Elisabetta Pelo, Ilaria Biagini, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi   +11 more
doaj   +1 more source

Introducing Borsantrazole: A Trifunctional Boron‐Based Pyrazole That Extends the Lifespan of Amyotrophic Lateral Sclerosis Mice

Advanced Science, EarlyView.
Herein we report a boron‐based pyrazole, (Borsantrazole ‐ a small molecule that selectively targets oxidative stress) that significantly increases survival, reduces weight loss, delays disease onset, and affects global protein changes in the SOD1‐G37R mouse model of ALS.
Nitesh Sanghai, Rhonda Kelley, Ying Lao, M. Immanuel Reyes Madlangsakay, Prasanta Paul, M. Alejandra Llanes‐Cuesta, Jun‐Feng Wang, René P. Zahedi, Jiming Kong, Geoffrey K. Tranmer   +9 more
wiley   +1 more source

The tyrosine phosphatases LAR and PTPRδ act as receptors of the nidogen-tetanus toxin complex

The EMBO Journal
Tetanus neurotoxin (TeNT) causes spastic paralysis by inhibiting neurotransmission in spinal inhibitory interneurons. TeNT binds to the neuromuscular junction, leading to its internalisation into motor neurons and subsequent transcytosis into ...
Sunaina Surana, David Villarroel-Campos, Elena R Rhymes, Maria Kalyukina, Chiara Panzi, Sergey S Novoselov, Federico Fabris, Sandy Richter, Marco Pirazzini, Giuseppe Zanotti, James N Sleigh, Giampietro Schiavo   +11 more
doaj   +1 more source

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension

Medical Sciences
Secondary hypertension and resistant hypertension may result from potentially treatable acquired or hereditary diseases. Inherited Metabolic Disorders are not routinely included in the differential diagnosis of these contexts associated with hypertension,
Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, João Paulo Barile, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Daniel Delgado Seneor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

Neurology: Genetics, 2015
Objective: To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases ...
Xia Tian, W. Liang, Yanming Feng, Jing Wang, V. Zhang, Chih-Hung Chou, Hsien-Da Huang, Ching-Wan Lam, Ya-Yun Hsu, Thy-Sheng Lin, Wan-Tzu Chen, L. Wong, Y. Jong   +12 more
semanticscholar   +1 more source

NEUROMUSCULAR DISEASE AND ANAESTHESIA

British Journal of Anaesthesia, 1974
Diseases affecting the neuromuscular system are numerous and not uncommon (for classification see Appendix). Almost all of the drugs used in anaesthesia have either a direct or an indirect effect on muscle, and so an understanding by anaesthetists of the neuromuscular diseases is essential in view of the universal requirement of muscle relaxation ...
openaire   +2 more sources

Targeted β‐Glucan‐Veiled Oral Apremilast Nanotherapy Modulates Key Dysbiosis‐Associated Gut Microbiota and Alleviates Ulcerative Colitis‐Associated Anxiety, Depression, and Neuropsychiatric Behaviors

Advanced Science, EarlyView.
This study introduces β‐glucan‐shielded apremilast laden nanomicelles that withstand gastrointestinal degradation, selectively accumulate in inflamed colon tissue, and modulate the microbiota–gut–brain axis. The formulation restores barrier integrity, reduces systemic and neuroinflammation, and improves anxiety‐ and depression‐like behaviors in colitis
Chandrashekhar Jori, Ahmed Shaney Rehman, Taruna Lamba, Anas Ahmad, Jattin Kumar, Aneesh Ali, Ajesh Joshi, Ashraf Ali, Suhel Parvez, Javed N. Agrewala, Rehan Khan   +10 more
wiley   +1 more source

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

Ultrasound Assessment of the Diaphragm Across Neuromuscular Diseases

Clinical Neuroimaging
Background and Purpose Despite its utility in certain neuromuscular disorders, the exact role of diaphragmatic ultrasound in the workup of Myasthenia Gravis (MG) and other neuromuscular disorders is not well‐understood.
Mohamed Khateb, Monica Alcantara, Rodrigo Martinez‐Harms, Mona Kariri, Lubna Daniyal, Hans Katzberg, Vera Bril   +6 more
doaj   +1 more source