Concepedia

Maria Lisa Putorti

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Statistics

Publications

3

Citations

344

H-Index

3

Active since

2010

Affiliations

McGill University(Current)

Montreal Children's Hospital

Montreal Neurological Institute and Hospital

Children's National

Maria Lisa Putorti is an author at McGill University specializing in neurogenetics, molecular genetics, and mendelian neurological disorders.

Publications per year

2010–2014

3

Publications

3

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 270 citations · Full text

, , +12

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

Geneviève Bernard, Isabelle Thiffault, Martine Tétreault et al. · Neurogenetics · 2010 · 44 citations

, , +14

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

Myriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber et al. · Muscle & Nerve · 2014 · 30 citations

, , +17

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