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Afif Hentati

Researcher at NorthShore University HealthSystem

Publications -  26
Citations -  7797

Afif Hentati is an academic researcher from NorthShore University HealthSystem. The author has contributed to research in topics: Locus (genetics) & Gene. The author has an hindex of 18, co-authored 26 publications receiving 7484 citations. Previous affiliations of Afif Hentati include University of Chicago & Northwestern University.

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.

TL;DR: In this article, the authors found that mutations of human Cu,Zn superoxide dismutase (SOD) contribute to the pathogenesis of familial amyotrophic lateral sclerosis (ALS).
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

TL;DR: The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

TL;DR: To localize the gene for one of the autosomal recessive forms of ALS, linkage analysis to a large inbred family from Tunisia suggested that the ALS2 locus lies in the 8 cM segment flanked by D2S755 and D2 S775.
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Hereditary Spastic Paraplegia Advances in Genetic Research

TL;DR: Clinical, genetic, and pathologic features of HSP are reviewed and differential diagnosis and diagnostic criteria of this important group of disorders are presented and polymorphic microsatellite markers useful for genetic linkage analysis and genetic counseling are discussed.