Results 191 to 200 of about 7,495,371 (267)

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

Physiotherapy in deceased organ donation: A mixed methods study of current practice and perceptions amongst UK-based intensive care physiotherapists. [PDF]

J Intensive Care Soc
Saunders S, Swingwood E, van Willigen Z, Rand S, Shannon H.   +4 more
europepmc   +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

The frequency, risk factors and spatial distribution associated with having a diagnosis of leishmaniosis in dogs in the UK in 2019. [PDF]

PLoS One
Kent SC, O'Neill DG, Stevens KB, Solano-Gallego L, Brodbelt DC.   +4 more
europepmc   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

Commercial and Corporate Provision of Healthcare, Capitalism and the State. [PDF]

Sociol Health Illn
Fox NJ.
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source