Results 211 to 220 of about 472,288 (373)

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

The Role of Central Sensitization in Autoimmune Connective Tissue Diseases: A Comparative Cross-Sectional Study. [PDF]

Int J Rheum Dis
Bazancir-Apaydin Z, Apaydin H, Armagan B, Orhan K, Erten S.   +4 more
europepmc   +1 more source

Calciphylaxis and its co-occurrence with connective tissue diseases. [PDF]

Int Wound J, 2023
Zhou Y, Chen Y, Yin G, Xie Q.
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Cocaine abuse and connective tissue disease

, 1984
Daniel J. Trozak
openalex   +1 more source

Pulmonary diffusing capacity disturbances are related to nailfold capillary changes in patients with Raynauds's phenomenon with and without an underlying connective tissue disease [PDF]

, 1990
Henk Groen, G. Wichers, E. J. ter Borg, Thomas W. van der Mark, A. A. Wouda, Cees G. M. Kallenberg   +5 more
openalex   +1 more source

Trends and Associations of Chilblains Prevalence with Connective Tissue Diseases, Including COVID-19 Incidence. [PDF]

Clin Cosmet Investig Dermatol
Argobi Y.
europepmc   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley, Bradley Judge, Dmitriy A. Yablonskiy, Robert T. Naismith, Matthew R. Brier, Anne H. Cross   +5 more
wiley   +1 more source

IgE autoantibodies to nuclear antigens in patients with different connective tissue diseases: re-evaluation and novel findings. [PDF]

Front Immunol
Kramer K, Pecher AC, Henes J, Klein R.
europepmc   +1 more source

Recent Advances in the Treatment of Pulmonary Arterial Hypertension Associated with Connective Tissue Diseases. [PDF]

Pharmaceuticals (Basel), 2023
Smukowska-Gorynia A, Gościniak W, Woźniak P, Iwańczyk S, Jaxa-Kwiatkowska K, Sławek-Szmyt S, Janus M, Paluszkiewicz J, Mularek-Kubzdela T.   +8 more
europepmc   +1 more source