List of works - Steven Frucht

Falling asleep at the wheel: motor vehicle mishaps in persons taking pramipexole and ropinirole

scientific article

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

scientific article

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

scientific article

Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

scientific journal article

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

scientific article published on 18 October 2006

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

Risk of tremor and impairment from tremor in relatives of patients with essential tremor: A community-based family study

scientific article published on 01 June 2001

Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study

scientific article

Erythropoietin-associated hypertensive posterior leukoencephalopathy.

scientific article published in September 1997

Accuracy of family history data on Parkinson's disease

scientific article

The natural history and treatment of acquired hemidystonia: report of 33 cases and review of the literature

scientific article

An international consensus study of neuroleptic malignant syndrome diagnostic criteria using the Delphi method

scientific article

Case-control study of the parkin gene in early-onset Parkinson disease

scientific article

What's special about task in dystonia? A voxel-based morphometry and diffusion weighted imaging study.

scientific article

Familial aggregation of early- and late-onset Parkinson's disease

scientific article published on 01 October 2003

A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor

scientific article

The Unified Myoclonus Rating Scale

scientific article published on 01 January 2002

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

scientific article published on 01 February 2007

The clinical spectrum of posthypoxic myoclonus

scientific article

Network correlates of disease severity in multiple system atrophy

scientific article published on April 4, 2012

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease

scientific article

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method

scientific article

Identification and management of deep brain stimulation intra- and postoperative urgencies and emergencies.

scientific article

Embouchure dystonia--Portrait of a task-specific cranial dystonia.

scientific article

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

scientific article

Treatment of Parkinson's disease : what's on the horizon?

scientific article

The hand that has forgotten its cunning--lessons from musicians' hand dystonia

scientific article

Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PD

scientific article published on 01 October 2003

Mild Tremor in Relatives of Patients With Essential Tremor

scientific article published on 01 October 2001

Alcohol responsiveness in laryngeal dystonia: a survey study.

scientific article

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

scientific article published on 01 March 2008

Lack of Familial Aggregation of Parkinson Disease and Alzheimer Disease

scientific article published on 01 July 2004

Tetrabenazine therapy of pediatric hyperkinetic movement disorders.

scientific article published on November 2006

The definition of dystonia: current concepts and controversies.

scientific article published on June 2013

Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies

scientific article published on 15 December 2015

Movement disorder emergencies

scientific article published on 01 August 2008

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations

scientific article

Dysphagia in stroke, neurodegenerative disease, and advanced dementia

scientific article

Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

scientific article published on 10 February 2017

Focal task specific dystonia: a review and update.

scientific article

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

scientific article

Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism

scientific article published on 9 November 2017

Focal task-specific dystonia in musicians

scientific article

Isolated vocal tremor as a focal phenotype of essential tremor: a retrospective case review

scientific article published on March 2, 2015

Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.

scientific article published in July 2009

Rating scales for musician's dystonia: the state of the art

scientific article

The relation between depression and parkin genotype: the CORE-PD study

scientific article published on December 2011

A patient with intractable posthypoxic myoclonus (Lance-Adams syndrome) treated with sodium oxybate.

scientific article published in March 2009

Tetrabenazine in the treatment of severe pediatric chorea.

scientific article

List of works by Steven Frucht

Falling asleep at the wheel: motor vehicle mishaps in persons taking pramipexole and ropinirole

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Risk of tremor and impairment from tremor in relatives of patients with essential tremor: A community-based family study

Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study

Erythropoietin-associated hypertensive posterior leukoencephalopathy.

Accuracy of family history data on Parkinson's disease

The natural history and treatment of acquired hemidystonia: report of 33 cases and review of the literature

An international consensus study of neuroleptic malignant syndrome diagnostic criteria using the Delphi method

Case-control study of the parkin gene in early-onset Parkinson disease

What's special about task in dystonia? A voxel-based morphometry and diffusion weighted imaging study.

Familial aggregation of early- and late-onset Parkinson's disease

A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor

The Unified Myoclonus Rating Scale

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

The clinical spectrum of posthypoxic myoclonus

Network correlates of disease severity in multiple system atrophy

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method

Identification and management of deep brain stimulation intra- and postoperative urgencies and emergencies.

Embouchure dystonia--Portrait of a task-specific cranial dystonia.

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Treatment of Parkinson's disease : what's on the horizon?

The hand that has forgotten its cunning--lessons from musicians' hand dystonia

Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PD

Mild Tremor in Relatives of Patients With Essential Tremor

Alcohol responsiveness in laryngeal dystonia: a survey study.

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

Lack of Familial Aggregation of Parkinson Disease and Alzheimer Disease

Tetrabenazine therapy of pediatric hyperkinetic movement disorders.

The definition of dystonia: current concepts and controversies.

Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies

Movement disorder emergencies

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations

Dysphagia in stroke, neurodegenerative disease, and advanced dementia

Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

Focal task specific dystonia: a review and update.

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism

Focal task-specific dystonia in musicians

Isolated vocal tremor as a focal phenotype of essential tremor: a retrospective case review

Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.

Rating scales for musician's dystonia: the state of the art

The relation between depression and parkin genotype: the CORE-PD study

A patient with intractable posthypoxic myoclonus (Lance-Adams syndrome) treated with sodium oxybate.

Tetrabenazine in the treatment of severe pediatric chorea.