<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03042975</url>
  </required_header>
  <id_info>
    <org_study_id>2019P001576</org_study_id>
    <secondary_id>R01DC011805</secondary_id>
    <nct_id>NCT03042975</nct_id>
  </id_info>
  <brief_title>Imaging Genetics of Laryngeal Dystonia</brief_title>
  <official_title>Imaging Genetics of Laryngeal Dystonia</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Kristina Simonyan</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>National Institute on Deafness and Other Communication Disorders (NIDCD)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
  </sponsors>
  <source>Massachusetts Eye and Ear Infirmary</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The contribution of genetic risk factors to the development of focal dystonias is evident.&#xD;
      However, understanding of how variations in the causative gene expression lead to variations&#xD;
      in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains&#xD;
      limited. The research program of the investigators is set to determine the relationship&#xD;
      between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic&#xD;
      dysphonia). The researchers use a novel approach of combined imaging genetics,&#xD;
      next-generation DNA sequencing, and clinical-behavioral testing. The use of a&#xD;
      cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms&#xD;
      that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for&#xD;
      the understanding of the mechanistic aspects of brain function affected by risk gene&#xD;
      variants, which can be used reliably for the discovery of associated genes and neural&#xD;
      integrity markers for this disorder. The expected outcome of this study may lead to better&#xD;
      clinical management of this disorder, including its improved detection, accurate diagnosis,&#xD;
      and assessment of the risk of developing dystonia in family members.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Laryngeal dystonia (LD), or spasmodic dysphonia, is an isolated focal dystonia characterized&#xD;
      by selective impairment of speech production due to involuntary spasms in the laryngeal&#xD;
      muscles. Despite the well-characterized clinical features of LD, its clinical management&#xD;
      remains challenging due, in part, to the absence of objective measures (biomarkers) for early&#xD;
      detection and differential diagnosis. This results in diagnostic inaccuracies, which have a&#xD;
      negative impact on the patient's quality of life and healthcare costs. Importantly, delayed&#xD;
      diagnosis leads to deferred treatment. The objective of this application is to conduct a&#xD;
      series of studies that combine advanced machine-learning with neuroimaging and genetics to&#xD;
      (1) identify the neural markers that accurately differentiate LD between its clinical&#xD;
      phenotypes (adductor vs. abductor), genotypes (sporadic vs. familial), and comorbid disorders&#xD;
      (voice tremor and muscle tension dysphonia); (2) determine the early predictive neural&#xD;
      markers of LD development in at-risk individuals, and (3) validate associated LD gene&#xD;
      mutations. Supported by our preliminary data, our central hypothesis is that brain&#xD;
      abnormalities are shaped, in part, by underlying genetic factors and exhibit LD&#xD;
      form-characteristic features, which can be used as differential diagnostic and early&#xD;
      predictive biomarkers of this disorder. This research is innovative both conceptually and&#xD;
      methodologically because it uses a cross-disciplinary approach to focus on the neural&#xD;
      pathophysiology and genetic susceptibility factors for LD diagnostic and predictive biomarker&#xD;
      discovery. The proposed research is significant because it will directly contribute to&#xD;
      closing the critically existing gap in the clinical management of LD. Identification of LD&#xD;
      neural and genetic markers is expected to have a positive translational impact by&#xD;
      establishing enhanced criteria for accurate differential diagnosis and screening of persons&#xD;
      at risk. In short, the successful completion of these studies will open new horizons for the&#xD;
      clinical management of LD patients.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">January 23, 2017</start_date>
  <completion_date type="Anticipated">July 31, 2027</completion_date>
  <primary_completion_date type="Anticipated">July 31, 2027</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Brain changes in laryngeal dystonia</measure>
    <time_frame>5 years</time_frame>
    <description>Identify imaging biomarker of laryngeal dystonia</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Genes responsible for laryngeal dystonia</measure>
    <time_frame>5 years</time_frame>
    <description>Identify genetic mutations responsible for laryngeal dystonia</description>
  </secondary_outcome>
  <number_of_groups>4</number_of_groups>
  <enrollment type="Anticipated">410</enrollment>
  <condition>Laryngeal Dystonia</condition>
  <condition>Unaffected Relatives of Laryngeal Dystonia Patients</condition>
  <condition>Voice Tremor</condition>
  <condition>Muscle Tension Dysphonia</condition>
  <arm_group>
    <arm_group_label>Laryngeal Dystonia</arm_group_label>
    <description>Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Unaffected relatives of laryngeal dystonia patients</arm_group_label>
    <description>Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Voice tremor</arm_group_label>
    <description>Patients with voice tremor will undergo an MRI of the brain and a blood draw.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Muscle tension dysphonia</arm_group_label>
    <description>Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>MRI</intervention_name>
    <description>Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers</description>
    <arm_group_label>Laryngeal Dystonia</arm_group_label>
    <arm_group_label>Muscle tension dysphonia</arm_group_label>
    <arm_group_label>Unaffected relatives of laryngeal dystonia patients</arm_group_label>
    <arm_group_label>Voice tremor</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Blood draw</intervention_name>
    <description>Blood samples will be collected, the DNA will be extracted and banked for genetic studies.</description>
    <arm_group_label>Laryngeal Dystonia</arm_group_label>
    <arm_group_label>Muscle tension dysphonia</arm_group_label>
    <arm_group_label>Unaffected relatives of laryngeal dystonia patients</arm_group_label>
    <arm_group_label>Voice tremor</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Brain images and blood samples will be collected. The DNA will be extracted and banked for&#xD;
      genetic studies.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        laryngeal dystonia unaffected relatives of laryngeal dystonia patients voice tremor muscle&#xD;
        tension dysphonia&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion criteria:&#xD;
&#xD;
          1. Males and females of diverse racial and ethnic background, with age across the&#xD;
             lifespan;&#xD;
&#xD;
          2. Laryngeal Dystonia patients&#xD;
&#xD;
               -  phenotype: adductor or abductor&#xD;
&#xD;
               -  genotype: familial or sporadic&#xD;
&#xD;
          3. Voice Tremor patients&#xD;
&#xD;
               -  essential or&#xD;
&#xD;
               -  dystonic&#xD;
&#xD;
          4. Muscle tension dysphonia patients&#xD;
&#xD;
          5. Unaffected relatives of laryngeal dystonia patients with&#xD;
&#xD;
               -  familial laryngeal dystonia&#xD;
&#xD;
               -  early-onset laryngeal dystonia (onset at ≤ 35 y.o.)&#xD;
&#xD;
               -  typical onset laryngeal dystonia (onset at ≥ 40 y.o.)&#xD;
&#xD;
          6. Native English speakers.&#xD;
&#xD;
          7. Right-handedness.&#xD;
&#xD;
          8. Normal cognitive status.&#xD;
&#xD;
        Exclusion criteria:&#xD;
&#xD;
          1. Subjects who are incapable of giving informed consent.&#xD;
&#xD;
          2. Pregnant or breastfeeding women until a time when they are no longer pregnant or&#xD;
             breastfeeding.&#xD;
&#xD;
          3. Subjects with past or present medical history of (a) major neurological problems, such&#xD;
             as stroke, movement disorders (other than LD and VT in the patient groups), brain&#xD;
             tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies,&#xD;
             myasthenia gravis, demyelinating diseases, alcoholism, drug dependence; (b)&#xD;
             psychiatric problems, such as schizophrenia, bipolar depression, obsessive-compulsive&#xD;
             disorder; (c) laryn¬geal problems, such as vocal fold paralysis, paresis, vocal fold&#xD;
             nodules and polyps, carcinoma, chronic laryngitis.&#xD;
&#xD;
          4. Patients who are not symptomatic due to treatment with botulinum toxin injections into&#xD;
             the laryngeal muscles.&#xD;
&#xD;
          5. Subjects who receive medication(s) affecting the central nervous system.&#xD;
&#xD;
          6. Subjects with a history of major brain and/or laryngeal surgery.&#xD;
&#xD;
          7. Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be&#xD;
             removed for imaging study participation.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Kristina Simonyan, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Massachusetts Eye and Ear Infirmary</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Kristina Simonyan, MD, PhD</last_name>
    <phone>617-573-6016</phone>
    <email>Simonyan_Lab@MEEI.HARVARD.EDU</email>
  </overall_contact>
  <location>
    <facility>
      <name>Massachusetts Eye and Ear Infirmary</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02114</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Kristina Simonyan, MD, PhD</last_name>
      <phone>617-573-6016</phone>
      <email>Simonyan_Lab@MEEI.HARVARD.EDU</email>
    </contact>
    <investigator>
      <last_name>Kristina Simonyan, MD, PhD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <results_reference>
    <citation>Battistella G, Termsarasab P, Ramdhani RA, Fuertinger S, Simonyan K. Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. Cereb Cortex. 2017 Feb 1;27(2):1203-1215. doi: 10.1093/cercor/bhv313.</citation>
    <PMID>26679193</PMID>
  </results_reference>
  <results_reference>
    <citation>Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Bruggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.</citation>
    <PMID>28655586</PMID>
  </results_reference>
  <results_reference>
    <citation>Termsarasab P, Ramdhani RA, Battistella G, Rubien-Thomas E, Choy M, Farwell IM, Velickovic M, Blitzer A, Frucht SJ, Reilly RB, Hutchinson M, Ozelius LJ, Simonyan K. Neural correlates of abnormal sensory discrimination in laryngeal dystonia. Neuroimage Clin. 2015 Oct 30;10:18-26. doi: 10.1016/j.nicl.2015.10.016. eCollection 2016.</citation>
    <PMID>26693398</PMID>
  </results_reference>
  <results_reference>
    <citation>Fuertinger S, Horwitz B, Simonyan K. The Functional Connectome of Speech Control. PLoS Biol. 2015 Jul 23;13(7):e1002209. doi: 10.1371/journal.pbio.1002209. eCollection 2015 Jul.</citation>
    <PMID>26204475</PMID>
  </results_reference>
  <results_reference>
    <citation>Simonyan K, Fuertinger S. Speech networks at rest and in action: interactions between functional brain networks controlling speech production. J Neurophysiol. 2015 Apr 1;113(7):2967-78. doi: 10.1152/jn.00964.2014. Epub 2015 Feb 11.</citation>
    <PMID>25673742</PMID>
  </results_reference>
  <results_reference>
    <citation>Battistella G, Fuertinger S, Fleysher L, Ozelius LJ, Simonyan K. Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia. Eur J Neurol. 2016 Oct;23(10):1517-27. doi: 10.1111/ene.13067. Epub 2016 Jun 27.</citation>
    <PMID>27346568</PMID>
  </results_reference>
  <results_reference>
    <citation>Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. GNAL mutation in isolated laryngeal dystonia. Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1.</citation>
    <PMID>27093447</PMID>
  </results_reference>
  <results_reference>
    <citation>Rittiner JE, Caffall ZF, Hernandez-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2alpha Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8.</citation>
    <PMID>27939583</PMID>
  </results_reference>
  <results_reference>
    <citation>Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. Mov Disord. 2017 Apr;32(4):560-568. doi: 10.1002/mds.26920. Epub 2017 Feb 10.</citation>
    <PMID>28186656</PMID>
  </results_reference>
  <results_reference>
    <citation>Fuertinger S, Simonyan K. Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. J Neurosci. 2017 Aug 2;37(31):7438-7449. doi: 10.1523/JNEUROSCI.0384-17.2017. Epub 2017 Jul 3.</citation>
    <PMID>28674168</PMID>
  </results_reference>
  <verification_date>August 2022</verification_date>
  <study_first_submitted>January 31, 2017</study_first_submitted>
  <study_first_submitted_qc>February 1, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">February 3, 2017</study_first_posted>
  <last_update_submitted>August 10, 2022</last_update_submitted>
  <last_update_submitted_qc>August 10, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">August 12, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor-Investigator</responsible_party_type>
    <investigator_affiliation>Massachusetts Eye and Ear Infirmary</investigator_affiliation>
    <investigator_full_name>Kristina Simonyan</investigator_full_name>
    <investigator_title>Associate Professor of Otolaryngology - Head &amp; Neck Surgery, Director of Laryngology Research</investigator_title>
  </responsible_party>
  <keyword>dystonia</keyword>
  <keyword>spasmodic dysphonia</keyword>
  <keyword>imaging</keyword>
  <keyword>genetics</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Dysphonia</mesh_term>
    <mesh_term>Hoarseness</mesh_term>
    <mesh_term>Dystonia</mesh_term>
    <mesh_term>Dystonic Disorders</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03042975
org study id: 2019P001576
secondary id: R01DC011805
nct id: NCT03042975
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The contribution of genetic risk factors to the development of focal dystonias is evident.
      However, understanding of how variations in the causative gene expression lead to variations
      in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains
      limited. The research program of the investigators is set to determine the relationship
      between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic
      dysphonia). The researchers use a novel approach of combined imaging genetics,
      next-generation DNA sequencing, and clinical-behavioral testing. The use of a
      cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms
      that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for
      the understanding of the mechanistic aspects of brain function affected by risk gene
      variants, which can be used reliably for the discovery of associated genes and neural
      integrity markers for this disorder. The expected outcome of this study may lead to better
      clinical management of this disorder, including its improved detection, accurate diagnosis,
      and assessment of the risk of developing dystonia in family members.
Laryngeal dystonia (LD), or spasmodic dysphonia, is an isolated focal dystonia characterized
      by selective impairment of speech production due to involuntary spasms in the laryngeal
      muscles. Despite the well-characterized clinical features of LD, its clinical management
      remains challenging due, in part, to the absence of objective measures (biomarkers) for early
      detection and differential diagnosis. This results in diagnostic inaccuracies, which have a
      negative impact on the patient's quality of life and healthcare costs. Importantly, delayed
      diagnosis leads to deferred treatment. The objective of this application is to conduct a
      series of studies that combine advanced machine-learning with neuroimaging and genetics to
      (1) identify the neural markers that accurately differentiate LD between its clinical
      phenotypes (adductor vs. abductor), genotypes (sporadic vs. familial), and comorbid disorders
      (voice tremor and muscle tension dysphonia); (2) determine the early predictive neural
      markers of LD development in at-risk individuals, and (3) validate associated LD gene
      mutations. Supported by our preliminary data, our central hypothesis is that brain
      abnormalities are shaped, in part, by underlying genetic factors and exhibit LD
      form-characteristic features, which can be used as differential diagnostic and early
      predictive biomarkers of this disorder. This research is innovative both conceptually and
      methodologically because it uses a cross-disciplinary approach to focus on the neural
      pathophysiology and genetic susceptibility factors for LD diagnostic and predictive biomarker
      discovery. The proposed research is significant because it will directly contribute to
      closing the critically existing gap in the clinical management of LD. Identification of LD
      neural and genetic markers is expected to have a positive translational impact by
      establishing enhanced criteria for accurate differential diagnosis and screening of persons
      at risk. In short, the successful completion of these studies will open new horizons for the
      clinical management of LD patients.
observational model: Cohort
time perspective: Cross-Sectional
measure: Brain changes in laryngeal dystonia
time frame: 5 years
description: Identify imaging biomarker of laryngeal dystonia
measure: Genes responsible for laryngeal dystonia
time frame: 5 years
description: Identify genetic mutations responsible for laryngeal dystonia
arm group label: Laryngeal Dystonia
description: Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.
arm group label: Unaffected relatives of laryngeal dystonia patients
description: Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.
arm group label: Voice tremor
description: Patients with voice tremor will undergo an MRI of the brain and a blood draw.
arm group label: Muscle tension dysphonia
description: Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.
intervention type: Other
intervention name: MRI
description: Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
arm group label: Laryngeal Dystonia
arm group label: Muscle tension dysphonia
arm group label: Unaffected relatives of laryngeal dystonia patients
arm group label: Voice tremor
intervention type: Procedure
intervention name: Blood draw
description: Blood samples will be collected, the DNA will be extracted and banked for genetic studies.
arm group label: Laryngeal Dystonia
arm group label: Muscle tension dysphonia
arm group label: Unaffected relatives of laryngeal dystonia patients
arm group label: Voice tremor
Brain images and blood samples will be collected. The DNA will be extracted and banked for
      genetic studies.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Kristina Simonyan, MD, PhD
role: Principal Investigator
affiliation: Massachusetts Eye and Ear Infirmary
last name: Kristina Simonyan, MD, PhD
phone: 617-573-6016
email: Simonyan_Lab@MEEI.HARVARD.EDU
facility: 
status: Recruiting
contact: 
investigator: 
country: United States
citation: Battistella G, Termsarasab P, Ramdhani RA, Fuertinger S, Simonyan K. Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. Cereb Cortex. 2017 Feb 1;27(2):1203-1215. doi: 10.1093/cercor/bhv313.
PMID: 26679193
citation: Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Bruggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.
PMID: 28655586
citation: Termsarasab P, Ramdhani RA, Battistella G, Rubien-Thomas E, Choy M, Farwell IM, Velickovic M, Blitzer A, Frucht SJ, Reilly RB, Hutchinson M, Ozelius LJ, Simonyan K. Neural correlates of abnormal sensory discrimination in laryngeal dystonia. Neuroimage Clin. 2015 Oct 30;10:18-26. doi: 10.1016/j.nicl.2015.10.016. eCollection 2016.
PMID: 26693398
citation: Fuertinger S, Horwitz B, Simonyan K. The Functional Connectome of Speech Control. PLoS Biol. 2015 Jul 23;13(7):e1002209. doi: 10.1371/journal.pbio.1002209. eCollection 2015 Jul.
PMID: 26204475
citation: Simonyan K, Fuertinger S. Speech networks at rest and in action: interactions between functional brain networks controlling speech production. J Neurophysiol. 2015 Apr 1;113(7):2967-78. doi: 10.1152/jn.00964.2014. Epub 2015 Feb 11.
PMID: 25673742
citation: Battistella G, Fuertinger S, Fleysher L, Ozelius LJ, Simonyan K. Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia. Eur J Neurol. 2016 Oct;23(10):1517-27. doi: 10.1111/ene.13067. Epub 2016 Jun 27.
PMID: 27346568
citation: Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. GNAL mutation in isolated laryngeal dystonia. Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1.
PMID: 27093447
citation: Rittiner JE, Caffall ZF, Hernandez-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2alpha Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8.
PMID: 27939583
citation: Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. Mov Disord. 2017 Apr;32(4):560-568. doi: 10.1002/mds.26920. Epub 2017 Feb 10.
PMID: 28186656
citation: Fuertinger S, Simonyan K. Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. J Neurosci. 2017 Aug 2;37(31):7438-7449. doi: 10.1523/JNEUROSCI.0384-17.2017. Epub 2017 Jul 3.
PMID: 28674168
responsible party type: Sponsor-Investigator
investigator affiliation: Massachusetts Eye and Ear Infirmary
investigator full name: Kristina Simonyan
investigator title: Associate Professor of Otolaryngology - Head & Neck Surgery, Director of Laryngology Research
mesh term: Dysphonia
mesh term: Hoarseness
mesh term: Dystonia
mesh term: Dystonic Disorders
sharing ipd: No