Results 41 to 50 of about 5,127 (199)

Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease. [PDF]

J Pathol
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Hasan MM, Craddock J, Gong T, Lyons RJ, Stevanovski I, Chintalaphani SR, Deveson IW, Jaratlerdsiri W, Kumar KR, Hayes VM.   +9 more
europepmc   +2 more sources

Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers

Frontiers in Integrative Neuroscience, 2019
BackgroundIndividuals with premutation alleles of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition affecting sensorimotor function.
Walker S. McKinney, Zheng Wang, Shannon Kelly, Pravin Khemani, Su Lui, Stormi P. White, Matthew W. Mosconi   +6 more
doaj   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source

Neuropsychiatric feature-based subgrouping reveals neural sensory processing spectrum in female FMR1 premutation carriers: A pilot study

Frontiers in Integrative Neuroscience, 2023
IntroductionFragile X Syndrome (FXS) is rare genetic condition characterized by a repeat expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where individuals with greater than 200 repeats are defined as full mutation. FXS clinical
Jordan E. Norris, Lauren M. Schmitt, Lauren M. Schmitt, Lisa A. De Stefano, Ernest V. Pedapati, Ernest V. Pedapati, Ernest V. Pedapati, Craig A. Erickson, Craig A. Erickson, John A. Sweeney, Lauren E. Ethridge, Lauren E. Ethridge   +11 more
doaj   +1 more source

FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome [PDF]

, 2017
This is a report of FMR1 premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation.
Mirna Lechpammer, Jeanelle Ariza, Hagerman, Paul, Hagerman, Randi, Martínez‐Cerdeño, Verónica, Randi Hagerman, Noctor, Stephen, Paul Hagerman, Lechpammer, Mirna, Ariza, Jeanelle, Verónica Martínez-Cerdeño, Stephen Noctor   +11 more
core   +1 more source

Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers

NeuroImage: Clinical, 2020
Introduction: Premutation carriers of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease characterized by motor, cognitive, and psychiatric decline as well as cerebellar and cerebral ...
Walker S. McKinney, James Bartolotti, Pravin Khemani, Jun Yi Wang, Randi J. Hagerman, Matthew W. Mosconi   +5 more
doaj   +1 more source

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families [PDF]

, 2017
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may ...
Riley, Catharine, Catharine Riley, Anne Wheeler, Marsha Mailick, Melissa Raspa, Hagerman, Randi, Raspa, Melissa, Wheeler, Anne, Randi Hagerman, Mailick, Marsha   +9 more
core   +1 more source

Response Inhibition Deficits in Women With the \u3ci\u3eFMR1\u3c/i\u3e Premutation Are Associated With Age and Fall Risk [PDF]

, 2021
One in 113-178 females worldwide carry a premutation allele on the FMR1 gene. The FMR1 premutation is linked to neurocognitive and neuromotor impairments, although the phenotype is not fully understood, particularly with respect to age effects.
Schmitt, Lyndsay, Moser, Carly, Fairchild, Amanda, Schmidt, Joseph, Klusek, Jessica, Jessica Klusek, Lyndsay Schmitt, Amanda Fairchild, Carly Moser, Joseph Schmidt   +9 more
core   +1 more source

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Psychiatry, 2022
Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation,
Devon Johnson, Ellery Santos, Kyoungmi Kim, Kyoungmi Kim, Matthew D. Ponzini, Matthew D. Ponzini, Yingratana A. McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman   +12 more
doaj   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +1 more source