Results 81 to 90 of about 179,728 (215)

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

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

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Bacteriological examination of the udder samples collected from sheep and goats slaughtered at a local abattoir in elazığ [PDF]

Eurasian Journal of Veterinary Sciences
In this study. 133 udder lobes from 89 mastitic sheep and 67 from 40 mastitic goats slaughtered at a local abattoir in Elazığ, were collected for bacteriological examination.
H. Basri Gülcü, Hasan Öngör
doaj  

Goal Setting [PDF]

Craniomaxillofacial Trauma & Reconstruction, 2021
Rui, Fernandes, Sat, Parmar, Srinivas, Susarla   +2 more
openaire   +2 more sources

Goal Recognition through Goal Graph Analysis

Journal of Artificial Intelligence Research, 2001
We present a novel approach to goal recognition based on a two-stage paradigm of graph construction and analysis. First, a graph structure called a Goal Graph is constructed to represent the observed actions, the state of the world, and the achieved goals as well as various connections between these nodes at consecutive time steps. Then,
openaire   +4 more sources

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

Skopos Kuramını Yeniden Anlamak: Skopos Kuramında Amaç Kavramına Geniş Ölçekli Bir Bakış

Skad, 2015
Çeviribilimde etkin bir rol oynayan Skopos kuramı çeviride erek odaklılığı öne çıkaran bir kuram olmakla birlikte, kuramın bilimsel anlamda ağırlık noktasını çeviride amacı öncelemesi oluşturmaktadır.
Mehmet Gündoğdu, Muharrem Tosun, Nesrin Şevik   +2 more
doaj  

Student Goal Setting, Goal Tracking, and Goal Accomplishment

, 2023
This dataset came from the research paper "Sustainably engaging student personal development in a distracting digital world through experiential goal setting and weekly goal tracking" coauthored by the researchers. The project examines the effects of student weekly goal tracking reports on student goal achievement.
Hansen, Jared, Wilson, Paul, Christensen, Jeff   +2 more
openaire   +2 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source