Results 41 to 50 of about 2,611,676 (199)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Oculomotor Nerve

, 2014
The oculomotor nerve is the third cranial nerve. Arising from the midbrain, it passes through the superior orbital fissure to gain entry into the orbit.
Paul Rea, Rea, Paul M.
core   +1 more source

Morphometry of the Oculomotor Nerve in Duane’s Retraction Syndrome

, 2020
Objective: To investigate the morphometric characteristics of the oculomotor nerve and its association with horizontal rectus muscle volume in patients with Duane’s retraction syndrome (DRS) according to the presence of the abducens nerve. Methods:
Min Seok Kang, Hee Kyung Yang, Jounghan Kim, Jae Hyoung Kim, Jeong-Min Hwang   +4 more
core   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Imaging Findings in Neurogenic Ptosis

Journal of the Korean Society of Radiology
Neurogenic ptosis refers to upper eyelid drooping resulting from disrupted innervation of the eyelid retractor muscles. The differential diagnoses of neurogenic ptosis include oculomotor nerve palsy, Horner’s syndrome, and neuromuscular junction ...
Yiseul Son, Eun Ja Lee, Nam-Hee Kim, So Jeong Lee   +3 more
doaj   +1 more source

Clinical characteristics and etiological analysis of the peripheral third nerve palsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
Objective To summarize and analyze the etiology and clinical features of the third nervepalsy(TNP). Methods and Results The clinical data of patients with TNP diagnosed from January to October 2019 were retrospectively analyzed.
Li⁃ping ZHU, Jia⁃wei WANG
doaj  

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Primary diffuse large B-cell lymphoma (DLBCL) of the sphenoid sinus presenting with oculomotor nerve palsy: A case report and systemic review

World Neurosurgery: X
Introduction: Primary lymphomas of the paranasal sinuses, particularly those affecting the sphenoid sinus, are rare and often diagnostic challenging. Diffuse large B-cell lymphoma (DLBCL) typically presents nonspecific symptoms, resulting in diagnostic ...
Methee Wongsirisuwan, Kritsada Buakate
doaj   +1 more source