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M L Mostacciuolo

Showing results (51-60 of 58) with videos related to

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Neurology|June 10, 2010
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutationF Boaretto, A Vettori, A Casarin, et al.
American Journal of Medical Genetics|November 11, 1996
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeatsM Gennarelli, G Novelli, F Andreasi Bassi, et al.
Neuroepidemiology|August 7, 2004
Prevalence of inherited ataxias in the province of Padua, ItalyM Zortea, M Armani, E Pastorello, et al.
Circulation|December 15, 1996
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophyP Melacini, M Fanin, G A Danieli, et al.
Human Mutation|July 5, 2001
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesM L Mostacciuolo, E Righetti, M Zortea, et al.
Carbohydrate Polymers|September 27, 2014
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasitesN Manno, S Sherratt, F Boaretto, et al.
Journal of Medical Genetics|February 7, 2009
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumC Crimella, A Arnoldi, F Crippa, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative studyE Nelis, C Van Broeckhoven, P De Jonghe, et al.
Pageof 6

Showing results (51-60 of 58) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 58 results.
Neurology|June 10, 2010
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutationF Boaretto, A Vettori, A Casarin, et al.
American Journal of Medical Genetics|November 11, 1996
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeatsM Gennarelli, G Novelli, F Andreasi Bassi, et al.
Neuroepidemiology|August 7, 2004
Prevalence of inherited ataxias in the province of Padua, ItalyM Zortea, M Armani, E Pastorello, et al.
Circulation|December 15, 1996
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophyP Melacini, M Fanin, G A Danieli, et al.
Human Mutation|July 5, 2001
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesM L Mostacciuolo, E Righetti, M Zortea, et al.
Carbohydrate Polymers|September 27, 2014
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasitesN Manno, S Sherratt, F Boaretto, et al.
Journal of Medical Genetics|February 7, 2009
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumC Crimella, A Arnoldi, F Crippa, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative studyE Nelis, C Van Broeckhoven, P De Jonghe, et al.
Pageof 6