Results 281 to 290 of about 444,579 (327)
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee+19 more
wiley +1 more source
3DZSignDB: 3D avatar SigML data for Algerian sign language. [PDF]
Zerrouki T+3 more
europepmc +1 more source
ABSTRACT Objective Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders.
Julien Coelho+8 more
wiley +1 more source
A database of upper limb surface electromyogram signals from demographically diverse individuals. [PDF]
Gowda HT+11 more
europepmc +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade+8 more
wiley +1 more source
The role of the left primary motor cortex in apraxia. [PDF]
Perlova K+3 more
europepmc +1 more source
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano+15 more
wiley +1 more source
"Optimizing sEMG Gesture Recognition with Stacked Autoencoder Neural Network for Bionic Hand". [PDF]
Yadav MAP, Patil DSR.
europepmc +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden+15 more
wiley +1 more source