List of works by Alan K. Percy

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome

scientific article published on 08 July 2017

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

scientific article published on 01 November 2020

A de novo X;3 translocation in Rett syndrome

scientific article published on January 1990

A study of the treatment of Rett syndrome with folate and betaine

scientific article published on 18 February 2009

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

scientific article published on 16 February 2015

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

scientific article published on 01 January 2002

Assessment and management of nutrition and growth in Rett syndrome

scientific article published on October 2013

Assessment of Caregiver Inventory for Rett Syndrome

scientific article published on 28 January 2017

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

scientific journal article

Behavioral profiles in Rett syndrome: Data from the natural history study

scientific article published on 11 September 2018

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

scientific article published on 01 June 2019

Board certification in child neurology and neurology: cohort study

scientific article published on 01 January 2005

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

scientific article published on 11 January 2016

Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome

scientific article

Certification in child neurology: new directions for the twenty-first century

scientific article published in August 2005

Certification in neurodevelopmental disabilities: the development of a new subspecialty and results of the initial examinations.

scientific article published in January 2003

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

scientific article published on 15 March 2019

Child neurology training via the research pathway: outcome study

scientific article published on 01 February 2004

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

scientific article

Clinical trials and treatment prospects

scientific article

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials

scientific article

Cocaine-Inhibited Neuronal Differentiation in NGF-Induced PC12 Cells and Altered C-fos Expression Are Reversed by C-fos Antisense Oligonucleotidea

scientific article published in June 1998

Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study

scientific article published on 30 May 2020

Consensus guidelines on managing Rett syndrome across the lifespan

scientific article published on 13 September 2020

Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome

scientific article published in June 2000

Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome

scientific article

Deep sedation with propofol in patients with Rett syndrome

scientific article published in October 2006

Deep sedation with propofol in patients with Rett syndrome

scientific article published in March 2006

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

scientific journal article

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

scientific article published on 21 May 2013

Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing

scientific article published on 07 February 2014

Developmental delay in Rett syndrome: data from the natural history study

scientific article

Does gender parity exist in Fabry disease?

scientific article published in August 2005

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

scientific article published on 27 March 2019

Eating difficulties in girls with Rett syndrome compared with other developmental disabilities

scientific article

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

scientific article published on 12 May 2016

Epidemiology of Rett syndrome: a population-based registry.

scientific article published on February 1993

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

article

Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives

scientific article

Experimental models of Rett syndrome based on Mecp2 dysfunction.

scientific article

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

scientific article published on 08 December 2016

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

scientific article

Gastrointestinal dysmotility in Rett syndrome.

scientific article published on February 2014

Growth failure and outcome in Rett syndrome: specific growth references

scientific article

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

scientific article published on 03 May 2019

Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage.

scientific article

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

scientific article

In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015.

scientific article published on 4 May 2015

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

scientific article published on 01 May 2000

InterRett, a model for international data collection in a rare genetic disorder

scientific article

Longevity in Rett syndrome: analysis of the North American Database

scientific article published on January 2010

Longitudinal course of epilepsy in Rett syndrome and related disorders

scientific article

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

scientific article

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

scientific article

MeCP2 Deficiency Leads to Loss of Glial Kir4.1.

scientific article published in January 2018

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives

scientific article published on 14 October 2015

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

scientific article published on 25 February 2020

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

scientific article

Middle Ear Effusion in Children With Congenital Cytomegalovirus Infection

scientific article published on 01 April 2020

Multisystem comorbidities in classic Rett syndrome: a scoping review

scientific article published on 22 September 2020

Mutations in TITF-1 are associated with benign hereditary chorea

scientific article

Neuroscience. Path to treat Rett syndrome

scientific article published in October 2013

Nothing out of sequence?: think deletion!

scientific article published on 01 March 2007

Organization in autism

scientific article published in July 2012

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

scientific article

Patterns of X chromosome inactivation in the Rett syndrome

scientific article published on January 1990

Pediatric neurology's midlife crisis

scientific article published on 01 October 2004

Phenotypic features in MECP2 duplication syndrome: Effects of age

scientific article published on 10 November 2020

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

scientific article

Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders.

scientific article

Profiling scoliosis in Rett syndrome

scientific article

Progress in Rett Syndrome: from discovery to clinical trials

scientific article published on 04 August 2016

Pubertal development in Rett syndrome deviates from typical females

scientific article

Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options

scientific article published on January 2013

Recommendations regarding handling of the necropsy in Rett syndrome

scientific article

Reduction of biogenic amine levels in the Rett syndrome

scientific article published on October 1985

Rett Syndrome: Clinical-Molecular Correlates

Rett Syndrome: Coming to Terms with Treatment

article published in 2014

Rett Syndrome: Reaching for Clinical Trials

scientific article

Rett syndrome and associated movement disorders

scientific article

Rett syndrome diagnostic criteria: lessons from the Natural History Study

scientific article

Rett syndrome. Current status and new vistas

scientific article

Rett syndrome: North American database

scientific article published on December 2007

Rett syndrome: clinical and molecular update

scientific article

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone

scientific article

Rett syndrome: discrimination of typical and variant forms

scientific article published in January 1987

Rett syndrome: exploring the autism link

scientific article published on August 2011

Rett syndrome: from recognition to diagnosis to intervention

scientific article published on 01 May 2008

Rett syndrome: initial experience with an emerging clinical entity

scientific article published in January 1985

Rett syndrome: model of neurodevelopmental disorders

scientific article

Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions

scientific article published on 01 September 2005

Rett syndrome: qualitative and quantitative differentiation from autism

scientific article published in January 1988

Rett syndrome: recent research progress

scientific article published on 03 December 2007

Rett syndrome: revised diagnostic criteria and nomenclature

scientific article

Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging

scientific article published in October 1987

Rett's syndrome: characterization of respiratory patterns and sleep

scientific article

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

scientific article published on 7 February 2017

Severity Assessment in CDKL5 Deficiency Disorder

scientific article published on 27 March 2019

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

scientific article published on 30 April 2012

The American history of Rett syndrome

scientific article

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

scientific article

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

scientific article published on 07 December 2018

The course of awake breathing disturbances across the lifespan in Rett syndrome

scientific article published on 12 April 2018

The phenotype associated with a large deletion on MECP2.

scientific article

Tokyo symposium on the Rett syndrome: neurobiological approach--concluding remarks and epilogue

scientific article published on May 1, 1992

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

scientific article

Variable phenotypic expression of a MECP2 mutation in a family.

scientific article

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

scientific article published on November 2011

When Rett syndrome is due to genes other than MECP2.

scientific article

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