Results 31 to 40 of about 20,251 (253)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Revista CEFAC, 2009 OBJETIVO: verificar a ocorrência do nistagmo espontâneo / pré-calórico, sua direção, cálculo da velocidade angular média e real da componente lenta, sua influência quantitativa e qualitativa nas pro-vas calórica e rotatória em pacientes com sintomas ...
Gisiane Munaro +2 more
doaj +1 more source
Cerebral fat embolism syndrome mimicking thrombotic thrombocytopenic purpura in a patient with Hemoglobin SC disease [PDF]
, 2016 Case Presentation A 54 year‐old man with hemoglobin SC disease (HbSC) and a history of substance abuse presented to the Emergency Department from a nursing home with two days of progressive weakness, shortness of breath, and lower back pain.
Devnani, Rohit +2 more
core +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Eletronistagmografia versus videonistagmografia Electronystagmography versus videonystagmography
Brazilian Journal of Otorhinolaryngology, 2010 A eletronistagmografia (ENG) e a videonistagmografia (VNG) são métodos de registro dos movimentos oculares, empregados na avaliação dos distúrbios do equilíbrio corporal.
Maurício Malavasi Ganança +2 more
doaj +1 more source
UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING HUMAN DEVOLUTION [PDF]
, 2007 A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The intra-familial marriages suggested that the UTS is
BAGCI, Dr. Namik Kemal +6 more
core
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Characteristics and mechanisms of periodic alternating nystagmus
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Periodic alternating nystagmus (PAN) is a rare, congenital or acquired spontaneous nystagmus. Understanding the characteristics and mechanism of different types of PAN contributes to the recognition of this disease and the level of diagnosis and ...
Fei LI, Gang-gang CHEN
doaj
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.10 ...
Jia⁃lüe HUA
doaj