Results 61 to 70 of about 40,084 (217)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77

Annals of Clinical and Translational Neurology
FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense ...
Shu‐Huai Lin, Jun‐Hao Xie, Jun‐Yi Jiang, Xin‐Yu Yan, Chao‐Yin Hong, Wan‐Jin Chen, Ning Wang, Xiang Lin   +7 more
doaj   +1 more source

LPC18:0 Secreted by Exogenous Neural Stem Cells Potentiates Neurogenesis and Functional Recovery via GPR55‐Mediated Signalling in Spinal Cord Injury

Cell Proliferation, EarlyView.
LPC18:0 secreted by exogenous neural stem cells potentiates neurogenesis via the GPR55/AKT/GSK3β signalling axis, which ultimately promotes spinal cord injury recovery. ABSTRACT Spinal cord injury (SCI) is a devastating condition with limited therapeutic options. Although neural stem cell (NSC) transplantation shows regenerative potential, its efficacy
Dong Chen, Shuo Liu, Le‐Yi Tu, Ming‐Mei Yang, Cong‐Wang Xu, Yue Jiang, Hui Yang, Chen‐Xu Tai, Yan‐Ning Wang, Yuan‐Yuan Xie, Ping‐Ping Shen, Bin Wang   +11 more
wiley   +1 more source

Long‐term outcome of a non‐reducible congenital atlanto‐occipital subluxation in a warmblood foal

Equine Veterinary Education, EarlyView.
Summary An 11‐day‐old warmblood colt was referred to the Large Animal Teaching Hospital, University of Copenhagen, for further investigation of a stiff neck and lateral deviation of the poll, with suspicion of a congenital cervical vertebral abnormality.
D. M. T. Adler, S. Hansen, L. Rasmussen, S. Jacobsen   +3 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Long-term case management and outcomes in a young male patient with complete paraplegia post T4-T5 vertebral osteomyelitis and a previous documented thalamo-mesencephalic hemorrhage – case presentation [PDF]

Balneo and PRM Research Journal
(1) Background: Vertebral osteomyelitis is an infection affecting the vertebrae, with a poten-tially devastating impact, which requires a prompt diagnosis established as quickly as possible to avoid complications such as neurological impairment ...
Roxana Bistriceanu, Aura Spînu, Cristina Daia, Ioana Andone, Cristina Popescu, Mihai Băilă, Ruxandra Postoiu, Gelu Onose   +7 more
doaj   +1 more source

Central Nervous System Bleeding in Children With Haemophilia in Limited Resource

Haemophilia, EarlyView.
ABSTRACT Introduction Central nervous system (CNS) bleeding in children with haemophilia is a life‐threatening complication that may cause severe neurological sequelae or death. In resource‐limited settings, where prophylaxis is not universally accessible, its patterns and outcomes may differ from those in high‐income countries.
Patcharee Komvilaisak, Sudarat Sirichaipornsak, Paiporn Sripraya, Napat Laoaroon, Kunanya Suwannaying, Pichayen Duanthongphon   +5 more
wiley   +1 more source

Structural Vulnerability in Health Research: A Systematic Mixed Studies Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims To systematically examine how structural vulnerability has been defined and operationalised in United States‐based health research, identify conceptual consistencies and methodological gaps, and propose core dimensions of structural vulnerability along with implications for future application in health research.
Levia A. Sutton, Carmen Alvarez, Therese S. Richmond, Sara F. Jacoby   +3 more
wiley   +1 more source

Digital psychosocial interventions for individuals with spinal cord injury: a scoping review

Frontiers in Psychiatry
ObjectiveTo provide an overview of the digital mental health care landscape for individuals with spinal cord injury (SCI).MethodsPubMed, PsycInfo, and PSYNDEX were searched for articles meeting the following criteria: (1) article written in English or ...
Alice Armstrong, Katja Oetinger, Katja Weimer, Klaus Hönig   +3 more
doaj   +1 more source

Scoliosis and paraplegia [PDF]

Spinal Cord, 1967
Every patient suffering from kyphoscoliosis producing increasing abnormal neurological symptoms needs permanent neurological supervision. If conservative orthopaedic treatment does not result soon in a significant improvement, a Queckenstedt test and, if necessary, myelography has to be performed.
openaire   +2 more sources