Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Laura Canafoglia
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
American Journal of Human Genetics
Genetics
Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Related publications
D230N Mutation in Tropomyosin and R92L Mutation in Cardiac Troponin T Have Strikingly Different Impact on Calcium-Regulated Activation of Cardiac Myofilaments
Biophysical Journal
Biophysics
Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia
Neurobiology of Aging
Aging
Gerontology
Developmental Biology
Geriatrics
Neuroscience
Neurology
Hemophilia A: Different Phenotypes May Be Explained by Multiple and Variable Effects of the Causative Mutation in the F8 Gene
Haematologica
Hematology
Mutation Analysis of the Lamin a/C Gene (LMNA) Among Patients With Different Cardiomuscular Phenotypes
Journal of Medical Genetics
Genetics
Different Phenotypes in Dysferlinopathy
Internal Medicine
Internal Medicine
Medicine
TMEM106B Regulates Progranulin Levels and the Penetrance of FTLD in GRN Mutation Carriers
Neurology
Neurology
Genotypic Effect of a Mutation of the MYBPC3 Gene and Two Phenotypes With Different Patterns of Inheritance
Journal of Clinical Laboratory Analysis
Allergy
Immunology
Biochemistry
Public Health
Medical Laboratory Technology
Clinical Biochemistry
Hematology
Microbiology
Environmental
Occupational Health
Regulation of Progranulin Expression in Human Microglia and Proteolysis of Progranulin by Matrix Metalloproteinase-12 (MMP-12)
PLoS ONE
Multidisciplinary
Bypass Suppression of Small-Plaque Phenotypes by a Mutation in Poliovirus 2A That Enhances Apoptosis
Journal of Virology
Insect Science
Immunology
Microbiology
Virology
