List of works - Susan Perlman

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia ⬇️

scientific article published on July 8, 2010

An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease

scientific article

Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study

scientific article

Ataxia-telangiectasia: diagnosis and treatment

scientific article published on September 2003

Ataxias

scientific article

Candidate screening of the TRPC3 gene in cerebellar ataxia

scientific article

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

scientific article

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

scientific article

Common data elements for clinical research in Friedreich's ataxia.

scientific article

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

scientific article

Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial.

scientific article

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

scientific article

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

scientific article

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

scientific article

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature

scientific article published in December 2005

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

scientific article

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

scientific article

SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs

scientific article

Spinocerebellar degenerations

scientific article

Spinocerebellar degenerations: an update

scientific article

Vascular risk factors and clinical progression in spinocerebellar ataxias

scientific article

List of works by Susan Perlman

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia ⬇️

An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease

Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study

Ataxia-telangiectasia: diagnosis and treatment

Ataxias

Candidate screening of the TRPC3 gene in cerebellar ataxia

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

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

Common data elements for clinical research in Friedreich's ataxia.

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs

Spinocerebellar degenerations

Spinocerebellar degenerations: an update

Vascular risk factors and clinical progression in spinocerebellar ataxias