Publications by authors named "Monia Hammer"

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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Monia B Hammer

Genet Med· December 2023

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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor

Am J Med Genet A· November 2023

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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones

Am J Med Genet A· April 2023

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SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Georgia Xiromerisiou, Thomas Bourinaris, Henry Houlden, Patrick A Lewis, Konstantin Senkevich, Monia Hammer

Ann Clin Transl Neurol· October 2021

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Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Celeste Sassi, Rosa Capozzo, Monia Hammer, Chiara Zecca, Monica Federoff

Sci Rep· March 2021

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Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
Alexey A Shadrin, Sören Mucha, David Ellinghaus, Mary B Makarious, Cornelis Blauwendraat, Monia Hammer

Mov Disord· February 2021

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Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
Erica Sanford, Marilyn C Jones, Matthew Brigger, Monia Hammer, Lucia Giudugli

Cold Spring Harb Mol Case Stud· October 2020

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Blepharospasm: A genetic screening study in 132 patients.
Monia Hammer, Alexandra Abravanel, Elizabeth Peckham, Ava Mahloogi, Elisa Majounie

Parkinsonism Relat Disord· July 2019

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Common Premutations in the General Population.
Monia B Hammer, Andrew B Singleton

JAMA Neurol· June 2019

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Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Monia Hammer

Neurobiol Aging· June 2018

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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine

JAMA Neurol· May 2018

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SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Monia B Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles

Neurodegener Dis· April 2018

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Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.
Rosa Capozzo, Celeste Sassi, Monia B Hammer, Simona Arcuti, Chiara Zecca

Alzheimers Dement· August 2017

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu

Cell Rep· June 2016

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Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.
Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Moncef Feki, Wieme Maamouri-Hicheri

J Clin Neurosci· February 2014

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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Monia B Hammer, Ghada Eleuch-Fayache, Lucia V Schottlaender, Houda Nehdi, J Raphael Gibbs

Am J Hum Genet· February 2013

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Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Dalel Saidi, Amira Nasri

Diagn Mol Pathol· December 2012

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Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Jianjun Chen, Nizar Smaoui, Monia Ben Hamed Hammer, Xiaodong Jiao, S Amer Riazuddin

Invest Ophthalmol Vis Sci· July 2011

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Spinal muscular atrophy due to double gene conversion event.
Wiéme Maamouri, Monia Benhamed Hammer, Yosr Bouhlel, Sihem Souilem, Najla Khmiri

Int J Neurosci· February 2011

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