Results 181 to 190 of about 1,824,000 (291)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Organ-on-a-Chip: A Roadmap for Translational Research in Human and Veterinary Medicine. [PDF]

Int J Mol Sci
Surina S, Chmielewska A, Pratscher B, Freund P, Rodríguez-Rojas A, Burgener IA.   +5 more
europepmc   +1 more source

Translational Research, Chemo-Bioinformatics [PDF]

, 2016
梅嵜 雅人, 池原 達郎
core   +2 more sources

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

The importance of clinical and translational research for West Virginia

Marshall Journal of Medicine, 2017
Uma Sundaram
doaj   +1 more source

Challenging Clinical and Translational Physiology

Frontiers in Physiology, 2011
Heikki Veli Huikuri
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Library-based clinical and translational research support [PDF]

, 2013
Holmes, Kristi L, Johnson, Layne M, Lyon, Jennifer A, Sarli, Cathy C., Tennant, Michele R.   +4 more
core   +2 more sources

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

The Translational Research Program in Cancer Differences across Populations. [PDF]

Cancer Epidemiol Biomarkers Prev
Figueiredo JC, Redwood D, Li L, Donato E, Fort D, Fox EE, Grady WM, Green H, Harrison TA, Haupt C, Hsu L, Hullar MAJ, Huyghe JR, Johnson W, Koehne AL, LaBrie SD, Lakey MA, Lin M, Loroña NC, Maresh GA, Matrana M, Mizrahi JD, Nash SH, Nguyen NT, Paruch JL, Phipps AI, Qu C, Randolph TW, Romo S, Thomas CE, Thomas S, Tiesinga J, Whitlow C, Yeung CCS, Yin H, Zibilich CM, Li CI, Thomas TK, Peters U.   +38 more
europepmc   +1 more source