Cargando…

Personalized medicine for rare neurogenetic disorders: can we make it happen?

Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at an earlier age. Innovations in translational research facil...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Perspective
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958924/ https://www.ncbi.nlm.nih.gov/pubmed/35332073 http://dx.doi.org/10.1101/mcs.a006200

Ejemplares similares

Personal experience: Diagnosis and dilemmas - what happens when we diagnose patients with the label ‘schizophrenia’
por: Ellerby, Mark
Publicado: (2014)

We can make it happen
por: Kallestrup, Per
Publicado: (2017)

NAD(+) homeostasis in human health and disease
por: Zapata‐Pérez, Rubén, et al.
Publicado: (2021)

Antibiotic use and abuse: A threat to mitochondria and chloroplasts with impact on research, health, and environment
por: Wang, Xu, et al.
Publicado: (2015)

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)
por: Warmerdam, Hilde A. G., et al.
Publicado: (2020)

Conservation Research Is Not Happening Where It Is Most Needed
por: Wilson, Kerrie A., et al.
Publicado: (2016)

Global Blindness: The Progress We Are Making and Still Need to Make
por: Taylor, Hugh R.
Publicado: (2019)

Computational neurogenetic modeling
por: Benuskova, Lubica, et al.
Publicado: (2010)

Neurogenetics and Epigenetics of Loneliness
por: Bowirrat, Abdalla, et al.
Publicado: (2023)

What Happens when Special Needs Children Grow Up?
por: Wilson, Leigh, et al.
Publicado: (2009)

NAD(+) metabolism as a target for metabolic health: have we found the silver bullet?
por: Connell, Niels J., et al.
Publicado: (2019)

Make Change Happen
por: Coyne, Ian
Publicado: (2014)

A neurogenetic analysis of female autism
por: Jack, Allison, et al.
Publicado: (2021)

Person-first language: are we practicing what we preach?
por: Crocker, Amy F, et al.
Publicado: (2019)

Psychiatric genetics, neurogenetics, and neurodegeneration
por: Kerner, Berit
Publicado: (2015)

Neurogenetic and Epigenetic Aspects of Cannabinoids
por: Dennen, Catherine A., et al.
Publicado: (2022)

Making it happen, level 2
por: Tylleskär, Thorkild
Publicado: (2010)

Making Change Happen in Health
por: Horgan, Denis, et al.
Publicado: (2017)

Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1
por: Müller, Annelieke R., et al.
Publicado: (2021)

The role of testing in the fight against COVID-19: Current happenings in Africa and the way forward
por: Seidu, Abdul-Aziz, et al.
Publicado: (2020)

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
por: Boot, Erik, et al.
Publicado: (2021)

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant
por: Linders, Cathelijne C., et al.
Publicado: (2023)

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives
por: Overwater, Iris E, et al.
Publicado: (2019)

Making it happen : interaction in the second language classroom : from theory to practice /
por: Richard-Amato, Patricia A.
Publicado: (1996)

T Cells Plead for Rejuvenation and Amplification; With the Brain’s Neurotransmitters and Neuropeptides We Can Make It Happen
por: Levite, Mia
Publicado: (2021)

Implementing a National PrEP Program: How Can We Make It Happen?
por: Malebranche, David, et al.
Publicado: (2022)

Making things happen : a theory of causal explanation
por: Woodward, James F. (James Francis), 1946-
Publicado: (2003)

Neurogenetics of emotional reactivity to stress in animals
por: Chaouloff, Francis
Publicado: (2002)

Prevalence of neurogenetic disorders in the North of England
por: Bargiela, David, et al.
Publicado: (2015)

Sleep Disorders in Childhood Neurogenetic Disorders
por: Dosier, Laura Beth Mann, et al.
Publicado: (2017)

Neurogenetic analysis of childhood disintegrative disorder
por: Gupta, Abha R., et al.
Publicado: (2017)

Neurogenetic identification of mosquito sensory neurons
por: Konopka, Joanna K., et al.
Publicado: (2023)

How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey
por: Mancuso, Michelangelo, et al.
Publicado: (2022)

The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder
por: Welling, Mila S., et al.
Publicado: (2023)

What would happen to education if we take education evidence seriously?
por: van der Vleuten, C. P. M., et al.
Publicado: (2014)

When the left side knows something happened to the right – sensing injury in neurons contralateral and remote to injury
por: Verge, Valerie M.K., et al.
Publicado: (2020)

How managers make things happen
por: Odiorne, George S.
Publicado: (1987)

Precision Medicine: Making It Happen for Malaysia
por: Jamal, A Rahman A
Publicado: (2021)

Green HEMS: how to make it happen
por: ter Avest, E., et al.
Publicado: (2023)

Serial Testing for Tuberculosis: Can We Make Sense of T Cell Assay Conversions and Reversions?
por: Pai, Madhukar, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_j5ft9k19u5d3mkq0tkp4p1hfbg