Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant. [PDF]
Koutsis G +11 more
europepmc +1 more source
The Laryngeal Auditory Startle Reflex (LASR): A New Component of the Auditory Startle Response
The auditory startle reflex contains a distinct laryngeal component, termed the laryngeal auditory startle reflex (LASR). In healthy adults, the LASR is modulated by supratentorial influences and habituates to repetitive stimuli. Physiologic and pathologic implications for the LASR as a component of the overall human SR remain to be determined but may ...
Catherine F. Sinclair +4 more
wiley +1 more source
Is elevated serum homocysteine in isolated ischemic cranial nerve palsies a predictor of stroke? [PDF]
Ravindran PD +3 more
europepmc +1 more source
Anatomy of the woodchuck (Marmota monax) / [PDF]
Bezuidenhout, A. J. (Abraham Johannes), 1942- +1 more
core +2 more sources
Otogenic route of meningitis was associated with greater cochlear hair cell loss in comparison with the meningogenic one in this otopathology study. Neuronal depletion has been traditionally implicated in failed hearing rehabilitation of post‐meningitis deafness.
Matheus Pedrosa Tavares +5 more
wiley +1 more source
Prevalence and Patterns of Cranial Nerve Involvement in CIDP, Autoimmune Nodopathy, MMN, and Anti-MAG Neuropathy: A Multicenter Korea/UK Study of 582 Patients. [PDF]
Min YG +16 more
europepmc +1 more source
Southern African HIV Clinicians Society guideline for the prevention, diagnosis and management of cryptococcal disease among HIV-infected persons: 2019 update. [PDF]
Black, J +28 more
core +2 more sources
Nonenhancing thickened cranial nerves on MRI in Charcot-Marie-Thooth disease
U. Scemama, A. Varoquaux, M. Montava
openaire +2 more sources

