Search research articles
Contact Us
Filters
Showing results (41-50 of 101) with videos related to
Page
of 11
Sort By:
Human Mutation
|
October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2017
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Grazia Devigili, Michele De Filippo, Giovanni Ciana, et al.
Neuromuscular Disorders : NMD
|
April 24, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, et al.
Journal of Lipid Research
|
October 29, 2002
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2021
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Margaret M McGovern, Melissa P Wasserstein, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG
|
September 12, 2013
Functional analysis of 11 novel GBA alleles
Erika Malini, Serena Grossi, Marta Deganuto, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 27, 2017
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients
Lucilla Parnetti, Silvia Paciotti, Paolo Eusebi, et al.
Neurogenetics
|
September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
Stefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Molecular Genetics and Metabolism
|
September 8, 2012
Minimal disease activity in Gaucher disease: criteria for definition
Maja Di Rocco, Generoso Andria, Bruno Bembi, et al.
Biochimica Et Biophysica Acta
|
February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
Susanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 101) with videos related to
Sort By:
Page
of 11
Human Mutation
|
October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2017
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Grazia Devigili, Michele De Filippo, Giovanni Ciana, et al.
Neuromuscular Disorders : NMD
|
April 24, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, et al.
Journal of Lipid Research
|
October 29, 2002
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2021
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Margaret M McGovern, Melissa P Wasserstein, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG
|
September 12, 2013
Functional analysis of 11 novel GBA alleles
Erika Malini, Serena Grossi, Marta Deganuto, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 27, 2017
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients
Lucilla Parnetti, Silvia Paciotti, Paolo Eusebi, et al.
Neurogenetics
|
September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
Stefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Molecular Genetics and Metabolism
|
September 8, 2012
Minimal disease activity in Gaucher disease: criteria for definition
Maja Di Rocco, Generoso Andria, Bruno Bembi, et al.
Biochimica Et Biophysica Acta
|
February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
Susanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
Page
of 11