Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Voice Onset Time for Turkish Stop Consonants in Adult Cochlear Implanted Patients. [PDF]
Indian J Otolaryngol Head Neck Surg, 2015 Dalgic A, Kandogan T, Aksoy G.
europepmc +1 more source
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Annals of Clinical and Translational Neurology, EarlyView.Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
The application of Kohonen and Multilayer Perceptron Networks in the speech nonfluency analysis
Archives of Acoustics, 2014 Paper reports the neural network tests on ability of recognition and categorising the nonfluent and fluent utterance records. 40 of 4-second fragments containing the blockade before words starting with stop consonants (p, b, t, d, k and g) and ...
Izabela Szczurowska +2 more
doaj
Velopharyngeal Status of Stop Consonants and Vowels Produced by Young Children With and Without Repaired Cleft Palate at 12, 14, and 18 Months of Age: A Preliminary Analysis. [PDF]
J Speech Lang Hear Res, 2017 Eshghi M +4 more
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
The influence of stop consonants' perceptual features on the Articulation Index model. [PDF]
J Acoust Soc Am, 2012 Singh R, Allen JB.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
HVPT vs. LVPT Spanish Stop Consonants [PDF]
This study examined the impact of input variability on the perception of Spanish stop consonants by English-speaking beginners. A total of 128 participants completed 20 online identification sessions targeting /p, t, k, b, d, g/.
Iván Andreu Rascón
core
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source