Cargando…

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

INTRODUCTIONS: Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the DMD gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients’ quality of li...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iskandar, Kristy, Triono, Agung, Sunartini, Dwianingsih, Ery Kus, Indraswari, Braghmandita Widya, Kirana, Ignatia Rosalia, Ivana, Gabriele, Sutomo, Retno, Patria, Suryono Yudha, Herini, Elisabeth Siti, Gunadi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621454/ https://www.ncbi.nlm.nih.gov/pubmed/36315559 http://dx.doi.org/10.1371/journal.pone.0276640

Ejemplares similares

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
por: Dwianingsih, Ery Kus, et al.
Publicado: (2023)

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
por: Iskandar, Kristy, et al.
Publicado: (2019)

Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report
por: Iskandar, Kristy, et al.
Publicado: (2023)

Health-related quality of life profile of Indonesian children and its determinants: a community-based study
por: Sitaresmi, Mei Neni, et al.
Publicado: (2022)

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
por: Triono, Agung, et al.
Publicado: (2021)

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report
por: Triono, Agung, et al.
Publicado: (2023)

Case series of cutaneous Langerhans cell histiocytosis in Indonesian children; The clinicopathological spectrum
por: Widodo, Irianiwati, et al.
Publicado: (2020)

Factors related with the incidence of acute respiratory infections in toddlers in Sleman, Yogyakarta, Indonesia: Evidence from the Sleman Health and Demographic Surveillance System
por: Fathmawati, Fathmawati, et al.
Publicado: (2021)

Phylogenetic analysis of congenital rubella virus from Indonesia: a case report
por: Herini, Elisabeth Siti, et al.
Publicado: (2022)

Neurological Manifestations of COVID-19 Associated Multisystem Inflammatory Syndrome in Children (MIS-C) in Yogyakarta, Indonesia
por: Herini, Elisabeth Siti, et al.
Publicado: (2023)

Phaeochromocytoma in a teenage girl with Cushing’s Syndrome
por: Patria, Suryono Yudha, et al.
Publicado: (2013)

Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents
por: Iskandar, Kristy, et al.
Publicado: (2018)

Prognostic Value of Clinicopathological Factors for Indonesian Breast Carcinomas of Different Molecular Subtypes
por: Widodo, Irianiwati, et al.
Publicado: (2017)

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting
por: Iskandar, Kristy, et al.
Publicado: (2019)

Cold abscess as a primary manifestation of thyroid tuberculosis
por: Anwar, Sumadi Lukman, et al.
Publicado: (2022)

Seizure in Indonesian Glioma Patients: Associated Risk Factors and Impact on Survival
por: Hartanto, Rachmat Andi, et al.
Publicado: (2021)

Primary rhabdoid epithelioid sarcoma of the left thigh mimicking epithelioid rhabdomyosarcoma: A diagnostic pitfall
por: Magetsari, Rahadyan, et al.
Publicado: (2020)

Tissue P16 is Associated with Smoking Status among Indonesian Nasopharyngeal Carcinoma Subjects
por: Wahyuningsih, Laila, et al.
Publicado: (2019)

The PPARGC1A Is the Gene Responsible for Thrifty Metabolism Related Metabolic Diseases: A Scoping Review
por: Aisyah, Riandini, et al.
Publicado: (2022)

Risk Factors, Patterns, and Distribution of Bone Metastases and Skeletal-Related Events in High-Risk Breast Cancer Patients
por: Anwar, Sumadi Lukman, et al.
Publicado: (2022)

Clinicopathological Features and Prognosis of Indonesian Patients with Gliomas with IDH Mutation: Insights into Its Significance in a Southeast Asian Population
por: Malueka, Rusdy Ghazali, et al.
Publicado: (2020)

Prevalence and associated factors of psychosocial and behavioral problems in Indonesian adolescent students during the COVID-19 pandemic
por: Sutomo, Retno, et al.
Publicado: (2022)

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing
por: Triono, Agung, et al.
Publicado: (2023)

Association between Ki-67 Labeling index and Histopathological Grading of Glioma in Indonesian Population
por: Theresia, Emilia, et al.
Publicado: (2020)

Aggressive behavior of Her-2 positive colloid breast carcinoma: A case report in a metastatic breast cancer
por: Anwar, Sumadi Lukman, et al.
Publicado: (2020)

Complete diaphysis resorption of the femur: A case report in a metastatic papillary thyroid cancer
por: Suwardjo, Suwardjo, et al.
Publicado: (2020)

Concurrent manifestations of Horner’s syndrome and esophageal metastasis of breast cancer: case report of a young woman after a period of non-adherence to treatment: a case report
por: Anwar, Sumadi Lukman, et al.
Publicado: (2021)

Hemi-mandibulectomy without bony reconstruction: A case report of mandibular metastasis from a silent differentiated papillary thyroid cancer
por: Wahyono, Artanto, et al.
Publicado: (2022)

Clinical characteristics and the associated risk factors of the development of bilateral breast cancers: A case-control study
por: Anwar, Sumadi Lukman, et al.
Publicado: (2020)

Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy
por: Naidoo, Michael, et al.
Publicado: (2019)

Association of Hormonal Contraception with Meningioma Location in Indonesian Patients
por: Malueka, Rusdy Ghazali, et al.
Publicado: (2022)

Prevalence of pesticide related occupational diseases among Indonesian vegetable farmers – A collaborative work
por: Febriana, Sri Awalia, et al.
Publicado: (2023)

Metabolic comorbidities and the association with risks of recurrent metastatic disease in breast cancer survivors
por: Anwar, Sumadi Lukman, et al.
Publicado: (2021)

Risk factors of distant metastasis after surgery among different breast cancer subtypes: a hospital-based study in Indonesia
por: Anwar, Sumadi Lukman, et al.
Publicado: (2020)

Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies
por: Chamova, T, et al.
Publicado: ( 201)

A Complicated Case of Diffuse Large B-Cell Lymphoma in an Elderly Presenting with Massive Gastrointestinal Bleeding Successfully Treated with R-mini CHOP
por: Sunggoro, Agus Jati, et al.
Publicado: (2021)

Genetic polymorphisms of HLA-DP and isolated anti-HBc are important subsets of occult hepatitis B infection in Indonesian blood donors: a case-control study
por: Mardian, Yan, et al.
Publicado: (2017)

Dystrophin Dp116: A Yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene
por: Matsuo, Masafumi, et al.
Publicado: (2017)

The barriers of home environments for obesity prevention in Indonesian adolescents
por: Agung, Fransisca Handy, et al.
Publicado: (2022)

Prognostic Value of Lymphangiogenesis Determinants in Luminal and Non-luminal Breast Carcinomas
por: Widodo, Irianiwati, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_46atat4mp2sropbd4i93ibe91j