Results 61 to 70 of about 77,736 (278)

A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77. [PDF]

Ann Clin Transl Neurol
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 ...
Lin SH, Xie JH, Jiang JY, Yan XY, Hong CY, Chen WJ, Wang N, Lin X.   +7 more
europepmc   +2 more sources

Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]

, 2019
The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F., Conway De Macario E., Macario A. J. L., Marino Gammazza A., Scalia F.   +4 more
core   +1 more source

SENILE PARAPLEGIA [PDF]

The Journal of Nervous and Mental Disease, 1896
n ...
openaire   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Anatomical variation of the aorta in the West of Scotland – A population with high cardiovascular disease burden. Implications for stent design and deployment

Journal of Anatomy, Volume 242, Issue 1, Page 112-120, January 2023., 2023
A population with a high cardiovascular disease burden was found to have a high degree of anatomical variation in the aortic arch (angulation from coronal plane, origin of the vertebral artery) and the abdominal aorta regions (high degree of taper, high number of collaterals and tortuous vessels).
Hazel Allardyce, Ellis Shepherd, Emma L. Bailey   +2 more
wiley   +1 more source

Nonlinear modeling of FES-supported standing-up in paraplegia for selection of feedback sensors [PDF]

, 2005
This paper presents analysis of the standing-up manoeuvre in paraplegia considering the body supportive forces as a potential feedback source in functional electrical stimulation (FES)-assisted standing-up.
Bajd, T., Kamnik, R., Murray-Smith, R., Shi, J.Q.   +3 more
core   +1 more source

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

Higher hospitalization and mortality rates among SARS‐CoV‐2‐infected persons in rural America

The Journal of Rural Health, Volume 39, Issue 1, Page 39-54, Winter 2023., 2023
Abstract Purpose Rural communities are among the most underserved and resource‐scarce populations in the United States. However, there are limited data on COVID‐19 outcomes in rural America. This study aims to compare hospitalization rates and inpatient mortality among SARS‐CoV‐2‐infected persons stratified by residential rurality.
Alfred Jerrod Anzalone, Ronald Horswell, Brian M. Hendricks, San Chu, William B. Hillegass, William H. Beasley, Jeremy R. Harper, Wesley Kimble, Clifford J. Rosen, Lucio Miele, James C. McClay, Susan L. Santangelo, Sally L. Hodder, National COVID Cohort Collaborative (N3C) Consortium   +13 more
wiley   +1 more source

Pyonephrosis in paraplegia [PDF]

Spinal Cord, 1970
A report is given on 32 cases of pyonephrosis encountered over 17 years in paraplegic and tetraplegic patients. Its relation to neurological lesions and its time of onset, the clinical picture and the surgical treatment and results are discussed. Views are expressed on the value of conservative surgical treatment.
openaire   +2 more sources

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source