Results 21 to 30 of about 12,825 (214)

Ataxias

, 2017
Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system ...
Vikram G. Shakkottai
core   +1 more source

Autosomal recessive cerebellar ataxias [PDF]

, 2006
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal ...
Francesc Palau, Carmen Espinós, Espinós Carmen, Espinós, Carmen, Palau Martínez, Francesc, Palau Francesc   +5 more
core   +1 more source

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Rebecca J. Deyell, Lesleigh Abbott, Tony H. Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +21 more
wiley   +1 more source

DNA repair in trinucleotide repeat ataxias [PDF]

, 2018
The inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders. Pathogenic expansions of cytosine-adenine-guanine (CAG) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias ...
Wood, NW, Yau, WY, O'Connor, E, Sullivan, R, Akijian, L   +4 more
core   +2 more sources

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]

Journal of Integrative Neuroscience, 2020
Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
doaj   +1 more source

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Falls in degenerative cerebellar ataxias. [PDF]

, 2005
Contains fulltext : 48479.pdf (Publisher’s version ) (Open Access)We retrospectively and prospectively assessed the frequency and characteristics of falls in patients with degenerative cerebellar ataxias.
Warrenburg, B.P.C. van de, Steijns, J.A.G., Marten Munneke, Bart P.C. van de Warrenburg, Bastiaan R. Bloem, Berry P.H. Kremer, Janneke A.G. Steijns, Kremer, H.P.H., Bloem, B.R., Munneke, M.   +9 more
core   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies

Frontiers in Neurology
Neurological disorders pose a rapidly growing global health burden, significantly affecting cognitive and motor functions with profound societal repercussions.
Umar Saeed, Umar Saeed, Zahra Zahid Piracha, Zahra Zahid Piracha, Zahra Zahid Piracha, Muhammad Nouman Tariq, Shayan Syed, Maria Rauf, Laiba Razaq, Muhammad Kaleem Iftikhar, Amna Maqsood, Syed Muhammad Ahsan   +11 more
doaj   +1 more source

Spinocerebellar Ataxias

, 2021
Dr.
Andrew G. Lee, MD; Nicole Weber
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