List of works by Mahdi Ghani

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

scientific article published on 26 October 2010

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

scientific article

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations

scientific article published on 12 October 2016

Coding mutations in SORL1 and Alzheimer disease

scientific article

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

scientific article published on 20 July 2012

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

scientific article

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

scientific article

Fcγ Receptor Polymorphisms Do Not Predict Response to Intravenous Immunoglobulin in Myasthenia Gravis

article

Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-β40 and Amyloid-β42 Peptides and ABCA7 Transcription in Cell Culture Models

scientific article published on 13 June 2016

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28.

scientific article published on 6 May 2016

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

scientific article published on 21 July 2012

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

scientific article (publication date: 2012)

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

scientific article published on 23 May 2013

Identical twins with the C9orf72 repeat expansion are discordant for ALS

scientific article

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

scientific article published on 13 November 2014

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

scientific article published on 14 May 2013

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

scientific article published on 2 November 2015

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

scientific article published on September 2011

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease

scientific article published on 6 November 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

scientific article

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

scientific article

Novel GRN Mutations in Patients with Corticobasal Syndrome

scientific article published on 10 March 2016

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

scientific article

Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts

scientific article published on 15 February 2013

Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB.

scientific article

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.

scientific article published on 4 April 2018

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