Disease: CODAS syndrome
- A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
- A structure and function relationship study to identify the impact of the R721G mutation in the human mitochondrial lon protease
- Alterations in deglutition in children with congenital Zika virus syndrome
- Analysis of the linguistic profile in down syndrome using the arizona battery for communication disorders of dementia - a pilot study
- Assessment of speech nasality in children with Robin Sequence
- Assessment of swallowing in preterm newborns fed by bottle and cup
- Audiological findings in the Vogt-Koyanagi-Harada Syndrome
- Audiological profile and cochlear functionality in Williams syndrome
- Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
- Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia
- Characteristics of auditory evaluation in Williams syndrome: a systematic review
- Characterization of aphasia in aneurysmal subarachnoid hemorrhage
- Clinical features of LONP1-related infantile cataract
- CODAS syndrome
- CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease
- CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report
- Cognitive and behavioral profile of Williams Syndrome toddlers
- Communication difficulties perceived by parents of children with developmental disorders
- Communication in deafblind adults with Usher syndrome: retrospective observational study
- Comparing the results of DAADD and ABC of children included in autism spectrum disorders
- Complementarity between PREAUT grid and IRDI in the analysis of psychic risk at nine months of age and its relationship with gestational age
- Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
- Considering responsivity: a proposal for pragmatic analysis in autism spectrum
- Contributions of speech-language therapy to the integration of individuals with Down syndrome in the workplace
- Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
- Effects of electrostimulation associated with masticatory training in individuals with down syndrome
- Efferent Auditory Pathways Inhibition in Turner syndrome
- Electromyography of muscles involved in feeding premature infants
- Electrophysiological characterization of hearing in individuals with Down syndrome
- Emerging role of Lon protease as a master regulator of mitochondrial functions
- Expanding the Clinical Spectrum of <em>LONP1</em>-Related Mitochondrial Cytopathy
- Extended Neuralgic Amyotrophy Syndrome: voice therapy in one case of vocal fold paralysis
- Figure-based speech perception test: applicability in children with Down syndrome
- Findings of postoperative clinical assessment of swallowing in infants with congenital heart defect
- Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report
- Fluency aspects of oral narrative task in del22q11.2 syndrome
- Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis
- Frailty syndrome and risks for falling in the elderly community
- Genetic and audiologic study in elderly with sensorineural hearing loss
- Global Proteome of <em>LonP1</em><sup>+/-</sup> Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes
- Hearing and speech performance after cochlear implantation in children with Waardenburg syndrome
- Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise
- Impaired Mitochondrial Morphology and Functionality in <em>Lonp1</em><sup>wt/-</sup> Mice
- Inhibition of mitochondrial LonP1 protease by allosteric blockade of ATP binding and hydrolysis via CDDO and its derivatives
- Intensive treatment of speech disorders in robin sequence: a case report
- Kymographic characteristics of voice in women with Polycystic ovary syndrome
- Language, behavior and neurodevelopment in Joubert syndrome: a case report
- Language, neurodevelopment, and behavior in Angelman syndrome: a case report
- Mean length utterance in Brazilian children: a comparative study between Down syndrome, specific language impairment, and typical language development
- Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
- Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
- Myofunctional therapy applied to upper airway resistance syndrome: a case report
- Neurophysiological aspects of isotonic exercises in temporomandibular joint dysfunction syndrome
- Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report
- Normative nasalance scores in Chilean adults
- Opitz award-winning paper details genetic cause of CODAS syndrome: Research points to new categories of rare disorder
- Orofacial myofunctional profile of patients with sleep disorders: relationship with result of polysomnography
- Oropharyngeal dysphagia telerehabilitation in the Intensive Care Unit for COVID-19: a case report
- Qualitative and quantitative analysis of oropharyngeal swallowing in Down syndrome
- Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
- Reading skills in children diagnosed with hyperlexia: case reports
- Recent technologies in pulsatile drug delivery systems
- Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight
- Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies
- Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis
- Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease
- Symptoms of dysphagia in children with cleft lip and/or palate pre- and post-surgical correction
- The biology of Lonp1: More than a mitochondrial protease
- The first case report of CODAS syndrome in Chinese population caused by two <em>LONP1</em> pathogenic mutations
- The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations
- The Role of Lonp1 on Mitochondrial Functions during Cardiovascular and Muscular Diseases
- The use of nouns and verbs by children with Down syndrome in two different situations
- The use of superficial heat for treatment of temporomandibular disorders: an integrative review
- Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature
- What factors interfere with the performance of preschool children in the language subtest of Bayley-III?
- What we know of the central auditory disorders in children exposed to alcohol during pregnancy? Systematic review