[PDF][PDF] Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
…, T Jardini, R Levine, E Berry-Kravis… - The American Journal of …, 2003 - cell.com
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X
premutation and are affected by a multisystem, progressive neurological disorder. The two main …
premutation and are affected by a multisystem, progressive neurological disorder. The two main …
Penetrance of the fragile X–associated tremor/ataxia syndrome in a premutation carrier population
…, K Herman, J Grigsby, CM Greco, E Berry-Kravis… - Jama, 2004 - jamanetwork.com
ContextPremutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1)
gene are frequent in the general population, with estimated prevalences of 1 per 259 …
gene are frequent in the general population, with estimated prevalences of 1 per 259 …
Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …
spectrum disorder, and patients can present with severe behavioural alterations, including …
Advances in the treatment of fragile X syndrome
RJ Hagerman, E Berry-Kravis, WE Kaufmann… - …, 2009 - publications.aap.org
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity
disorder, autism, and other socioemotional problems, in individuals with …
disorder, autism, and other socioemotional problems, in individuals with …
An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management
DE Weese-Mayer, EM Berry-Kravis… - American journal of …, 2010 - atsjournals.org
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose: (1) To demonstrate the …
alveolar hypoventilation and autonomic dysregulation. Purpose: (1) To demonstrate the …
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of …
DE Weese‐Mayer, EM Berry‐Kravis… - American journal of …, 2003 - Wiley Online Library
Idiopathic congenital central hypoventilation syndrome (CCHS) has been linked to autonomic
nervous system dysregulation and/or dysfunction (ANSD) since it was first described in …
nervous system dysregulation and/or dysfunction (ANSD) since it was first described in …
Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial
EM Berry-Kravis, MD Harnett, SA Reines, MA Reese… - Nature medicine, 2021 - nature.com
The goal of this study was to determine whether a phosphodiesterase-4D (PDE4D) allosteric
inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in …
inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in …
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
E Berry-Kravis, D Hessl, S Coffey, C Hervey… - Journal of medical …, 2009 - jmg.bmj.com
Objective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was
conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and …
conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and …
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
…, RJ Hagerman, EM Berry-Kravis… - American Journal …, 2002 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Our purpose was to characterize the findings of MR imaging
of the brain of adult male fragile X premutation carriers with a recently identified disorder …
of the brain of adult male fragile X premutation carriers with a recently identified disorder …
Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status
…, LA Beckett, R Joglekar, E Berry-Kravis… - Archives of …, 2003 - jamanetwork.com
Context Few studies compare Alzheimer disease (AD) incidence among black and white
subjects. Objective To estimate incidence and the effect of the apolipoprotein E (APOE) ϵ4 …
subjects. Objective To estimate incidence and the effect of the apolipoprotein E (APOE) ϵ4 …