Cargando…

A perspective on “cure” for Rett syndrome

The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Clarke, Angus John, Abdala Sheikh, Ana Paula
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Position Statement
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879810/ https://www.ncbi.nlm.nih.gov/pubmed/29609636 http://dx.doi.org/10.1186/s13023-018-0786-6

Ejemplares similares

New avenues for prevention of occupational cancer: a global policy perspective
por: Iavicoli, Sergio, et al.
Publicado: (2019)

A proposed definition of rare diseases for China: from the perspective of return on investment in new orphan drugs
por: Cui, Yazhou, et al.
Publicado: (2015)

An appeal for strengthening genomic pathogen surveillance to improve pandemic preparedness and infection prevention: the German perspective
por: Salzberger, Bernd, et al.
Publicado: (2023)

Obesity and COVID-19: A Perspective from the European Association for the Study of Obesity on Immunological Perturbations, Therapeutic Challenges, and Opportunities in Obesity
por: Goossens, Gijs H., et al.
Publicado: (2020)

The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital
por: Mittal, Nimish, et al.
Publicado: (2021)

Consensus clinical management guidelines for Alström syndrome
por: Tahani, Natascia, et al.
Publicado: (2020)

Supporting patients in the transition to the revised pexidartinib dosing regimen: perspectives from the multidisciplinary clinical and allied health professional team
por: McCabe, Colleen, et al.
Publicado: (2023)

Expansion of India’s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management : a health policy perspective
por: Chaube, Pragya, et al.
Publicado: (2023)

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
por: Poisson, Alice, et al.
Publicado: (2015)

French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes
por: Groh, Matthieu, et al.
Publicado: (2023)

Effectiveness of Information and Communications Technology-Based Interventions for Obesity and Metabolic Syndrome
por: Kim, Sunyoung, et al.
Publicado: (2022)

Public Statement on the Importance of Prevention and Management of Obesity and Metabolic Syndrome during the COVID-19 Pandemic
por: Lee, Chang Beom
Publicado: (2021)

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
por: Fiot, Elodie, et al.
Publicado: (2022)

Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome
por: Teede, Helena J, et al.
Publicado: (2023)

Diagnosis and Management Considerations in Steroid-Related Hyperglycemia in COVID-19: A Position Statement from the Endocrine Society of India
por: Das, Sambit, et al.
Publicado: (2021)

CSANZ Position Statement on the Evaluation of Patients Presenting With Suspected Acute Coronary Syndromes During the COVID-19 Pandemic
por: Parsonage, William A., et al.
Publicado: (2020)

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
por: Javaid, Muhammad Kassim, et al.
Publicado: (2019)

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
por: Mosbah, H., et al.
Publicado: (2022)

Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement
por: Thorel, D., et al.
Publicado: (2020)

European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study
por: Requena-Méndez, Ana, et al.
Publicado: (2020)

Oral corticosteroids stewardship for asthma in adults and adolescents: A position paper from the Thoracic Society of Australia and New Zealand
por: Blakey, John, et al.
Publicado: (2021)

Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group for Renaming Diabetes Insipidus
por: Arima, Hiroshi, et al.
Publicado: (2022)

Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus
por: Arima, Hiroshi, et al.
Publicado: (2022)

Changing the name of diabetes insipidus: a position statement of the working group to consider renaming diabetes insipidus
por: Arima, Hiroshi, et al.
Publicado: (2022)

Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group to Consider Renaming Diabetes Insipidus
por: Arima, Hiroshi, et al.
Publicado: (2023)

Respiratory management of infants with chronic neonatal lung disease beyond the NICU: A position statement from the Thoracic Society of Australia and New Zealand*
por: Kapur, Nitin, et al.
Publicado: (2020)

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
por: Baldridge, Dustin, et al.
Publicado: (2021)

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
por: Lumaka, Aimé, et al.
Publicado: (2022)

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders
por: Mulberg, Andrew E., et al.
Publicado: (2019)

AOASM Position Statement on Esports, Active Video Gaming, and the Role of the Sports Medicine Physician
por: Franks, R. Robert, et al.
Publicado: (2022)

Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders
por: Fiore, Mathieu, et al.
Publicado: (2023)

COVID-19 and Acute Heart Failure: Screening the Critically Ill – A Position Statement of the Cardiac Society of Australia and New Zealand (CSANZ)
por: Lal, Sean, et al.
Publicado: (2020)

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
por: Clayton-Smith, Jill, et al.
Publicado: (2019)

ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable
por: Brannagan, Thomas H., et al.
Publicado: (2021)

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
por: Heslop, Emma, et al.
Publicado: (2015)

Sharing is caring: a call for a new era of rare disease research and development
por: Denton, Nathan, et al.
Publicado: (2022)

Graves’ orbitopathy as a rare disease in Europe: a European Group on Graves’ Orbitopathy (EUGOGO) position statement
por: Perros, P., et al.
Publicado: (2017)

Diabetic Retinopathy: A Position Statement by the American Diabetes Association
por: Solomon, Sharon D., et al.
Publicado: (2017)

Diabetic Neuropathy: A Position Statement by the American Diabetes Association
por: Pop-Busui, Rodica, et al.
Publicado: (2017)

A patient advocating for transparent science in rare disease research
por: Yang, Richard Rui
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2fren6f2ejm5ee0ol2hbg1jja9