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Monia Hammer

Showing results (1-10 of 9) with videos related to

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Parkinsonism & Related Disorders|April 9, 2019
Blepharospasm: A genetic screening study in 132 patientsMonia Hammer, Alexandra Abravanel, Elizabeth Peckham, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Scientific Reports|March 19, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of ApuliaCeleste Sassi, Rosa Capozzo, Monia Hammer, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndromeM Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Annals of Clinical and Translational Neurology|September 10, 2021
SORL1 mutation in a Greek family with Parkinson's disease and dementiaGeorgia Xiromerisiou, Thomas Bourinaris, Henry Houlden, et al.
Cell Reports|June 21, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansYubin Wang, Joshua Hersheson, Dulce Lopez, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
Neurobiology of Aging|March 17, 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3Celeste Sassi, Michael A Nalls, Perry G Ridge, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2020
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel DiseaseAlexey A Shadrin, Sören Mucha, David Ellinghaus, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Parkinsonism & Related Disorders|April 9, 2019
Blepharospasm: A genetic screening study in 132 patientsMonia Hammer, Alexandra Abravanel, Elizabeth Peckham, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Scientific Reports|March 19, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of ApuliaCeleste Sassi, Rosa Capozzo, Monia Hammer, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndromeM Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Annals of Clinical and Translational Neurology|September 10, 2021
SORL1 mutation in a Greek family with Parkinson's disease and dementiaGeorgia Xiromerisiou, Thomas Bourinaris, Henry Houlden, et al.
Cell Reports|June 21, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansYubin Wang, Joshua Hersheson, Dulce Lopez, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
Neurobiology of Aging|March 17, 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3Celeste Sassi, Michael A Nalls, Perry G Ridge, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2020
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel DiseaseAlexey A Shadrin, Sören Mucha, David Ellinghaus, et al.
Pageof 1