Results 61 to 70 of about 730,614 (221)
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Hereditary Sensory and Autonomic Neuropathy Type VIII [PDF]
, 2017 Hereditary sensory and autonomic neuropathy type VIII (HSAN 8 or HSAN VIII) is a rare genetic disorder that usually begins in infancy and is characterized by an inability to feel pain and inability to sweat (anhidrosis).
Pawar, Sunil Jayaram +1 more
core
Developmental Dynamics, EarlyView.Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini +2 more
wiley +1 more source
Hereditary sensory and autonomic neuropathy type V: Report of a rare case
Contemporary Clinical Dentistry, 2015 Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22).
Ritesh Kalaskar, Ashita Kalaskar
doaj +1 more source
Eye &ENT Research, EarlyView.ABSTRACT Artificial intelligence (AI) is reshaping ophthalmology from task‐specific image analysis toward multimodal, longitudinal, and clinically integrated decision support. This narrative review summarizes the methodological evolution of ophthalmic AI, including traditional machine learning, task‐specific deep learning, self‐supervised learning ...
Yuxin Liu, Hanruo Liu
wiley +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2 [PDF]
, 2012 Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33.
Kochański, Andrzej +4 more
core
A rare case of congenital insensitivity to pain with anhydrosiss
Indian Journal of Pain, 2015 Congenital insensitivity to pain syndrome with anhydrosis (CIPA) is a rare inherited disorder. It is characterized by loss of pain and temperature sensation, lack of sweating and mild mental retardation.
Govardhani Yanamadala +3 more
doaj +1 more source
Asymptomatic Carrier Neurologic Assessment: A Tool for Early Detection of Symptomatic Transition in Pathogenic TTR Gene Variant Carriers. [PDF]
Eur J NeurolThere are no tools to support early detection of ATTRv signs/symptoms or to identify risk of transition to clinically detectable disease in carriers of pathogenic ATTRv variants. This retrospective cohort study describes the ACNA, a brief 23‐item assessment for use in routine clinical visits.
Conceição I +8 more
europepmc +2 more sources