• Publications
  • Influence
Fragile X syndrome
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 hyperactivity,
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
Current results support a mechanism of involvement in premutation carriers, in which reduced translational efficiency is at least partially compensated through increased transcriptional activity in the full-mutation range as the FMR1 gene is silenced.
Flexibility of DNA.
  • P. Hagerman
  • Biology
    Annual review of biophysics and biophysical…
  • 1988
To most carefully address the influence of such factors as base sequence, DNA damage, and drug or protein interaction on the flexibility of DNA, methods are required that are most sensitive for DNA molecules of less than 500-1000 bp.
Protein composition of the intranuclear inclusions of FXTAS.
The protein complement of the inclusion itself is defined, which includes at least two RNA binding proteins, heterogeneous nuclear ribonucleoprotein A2 and muscle blind-like protein 1, which are possible mediators of the RNA gain-of-function in FXTAS.
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
It is demonstrated that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), and older men with ataxia and intention tremor should be screened for the F MR1 mutation.
Autism profiles of males with fragile X syndrome.
No significant relationship is found between the measures of autism and molecular features, including FMRP, FMRI mRNA, and CGG repeat number, in this cohort of males with fragile X syndrome.
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
It is reported that mRNAs containing expanded CGG repeats form large and dynamic intranuclear RNA aggregates that recruit several RNA‐binding proteins sequentially, first Sam68, then hnRNP‐G and MBNL1, and that tautomycin prevents both Sam68 and CGG RNA aggregate formation.
The fragile-X premutation: a maturing perspective.
awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics.