Search research articles
Contact Us
Filters
Showing results (1-10 of 37) with videos related to
Page
of 4
Sort By:
Acta Neurologica Belgica
|
November 10, 2018
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia
L Citrigno, A Magariello, P Pugliese, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 5, 2009
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
C Ungaro, P Servillo, Rosalucia Mazzei, et al.
Human Biology
|
September 23, 1997
Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy)
O Leone, M Muglia, A L Gabriele, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2009
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype
T Sprovieri, F L Conforti, A Fiumara, et al.
Human Heredity
|
January 1, 1997
A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene
G Annesi, M Muglia, F L Conforti, et al.
Clinical Chemistry
|
October 1, 1996
Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease
M Muglia, O Leone, G Annesi, et al.
Journal of the Neurological Sciences
|
December 27, 2016
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments
A Magariello, C Russo, L Citrigno, et al.
Human Genetics
|
June 29, 2007
Gene symbol: NOTCH3
R Mazzei, F L Conforti, C Ungaro, et al.
Human Mutation
|
February 19, 2000
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene
M Muglia, A Toscano, A L Gabriele, et al.
Human Genetics
|
November 28, 2006
Gene symbol: MECP2. Disease: Rett syndrome
F L Conforti, R Mazzei, T Sprovieri, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 37) with videos related to
Sort By:
Page
of 4
Acta Neurologica Belgica
|
November 10, 2018
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia
L Citrigno, A Magariello, P Pugliese, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 5, 2009
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
C Ungaro, P Servillo, Rosalucia Mazzei, et al.
Human Biology
|
September 23, 1997
Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy)
O Leone, M Muglia, A L Gabriele, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2009
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype
T Sprovieri, F L Conforti, A Fiumara, et al.
Human Heredity
|
January 1, 1997
A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene
G Annesi, M Muglia, F L Conforti, et al.
Clinical Chemistry
|
October 1, 1996
Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease
M Muglia, O Leone, G Annesi, et al.
Journal of the Neurological Sciences
|
December 27, 2016
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments
A Magariello, C Russo, L Citrigno, et al.
Human Genetics
|
June 29, 2007
Gene symbol: NOTCH3
R Mazzei, F L Conforti, C Ungaro, et al.
Human Mutation
|
February 19, 2000
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene
M Muglia, A Toscano, A L Gabriele, et al.
Human Genetics
|
November 28, 2006
Gene symbol: MECP2. Disease: Rett syndrome
F L Conforti, R Mazzei, T Sprovieri, et al.
Page
of 4