ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
core +1 more source
Syndrome de blépharophimosis: une forme particulière du ptosis congénital
The Pan African Medical Journal, 2015 Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor +5 more
doaj +1 more source
Post-TTM Rebound Pyrexia after Ischemia-Reperfusion Injury Results in Sterile Inflammation and Apoptosis in Cardiomyocytes [PDF]
, 2019 Introduction. Fever is frequently observed after acute ischemic events and is associated with poor outcome and higher mortality. Targeted temperature management (TTM) is recommended for neuroprotection in comatose cardiac arrest survivors, but pyrexia ...
Berger, Felix +6 more
core +1 more source
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]
, 2013 Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...
Cleary, MA +5 more
core +1 more source
A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress
Caspian Journal of Neurological Sciences, 2018 Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy.
Reza Shervin Badv +9 more
doaj
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Clinical Ophthalmology, 2012 Hatem A Tawfik,1 Mohammad A Rashad21Oculoplastic Service, 2Pediatric Ophthalmology Service, Ophthalmology Department, Ain Shams University, Cairo, EgyptPurpose: To describe the demographics, characteristics, management pitfalls, and outcomes of ...
Tawfik HA, Rashad MA
doaj
Ptosis congénital: expérience d'un centre de soins tertiaires Marocain et mise au point
The Pan African Medical Journal, 2014 Le ptosis congénital constitue la malposition palpébrale la plus fréquente de l'enfant. Le but de ce travail est de rapporter l'expérience de notre service dans la prise en charge de cette affection.
Hanan Handor +6 more
doaj +1 more source
Neuroblastoma in a Case with Congenital Horner’s Syndrome
Türk Oftalmoloji Dergisi, 2014 Miosis, ptosis, and ipsilateral facial anhidrosis are normally present in Horner’s syndrome. Pathologies which show central, preganglionic and postganglionic residence in sympathetic chain are present in its etiology.
Hüseyin Mayalı +2 more
doaj +1 more source
The Possibility of Marcus Gunn Jaw-winking and Monocular Elevation Deficiency Being the Same Disease
Journal of Pediatrics Review, 2020 Introduction: Marcus Gunn Jaw-Winking (MGJW) synkinesis is characterized by drooping eyelid and retraction with jaw movement. MGJW is usually seen alone, although familial cases have been documented.
Sogand Shahabinia +2 more
doaj