Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

A M Cobo

Showing results (21-30 of 31) with videos related to

Pageof 4
Sort By:
Neuromuscular Disorders : NMD|December 4, 2001
Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentationD Figarella-Branger, M El-Dassouki, A Saenz, et al.
Revista De Neurologia|April 2, 1999
[Alterations in functional proteins. Calpaine-3 deficiency]A López de Munain, A Urtasun, J J Poza, et al.
Psychological Medicine|July 25, 2009
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1A Sistiaga, I Urreta, M Jodar, et al.
Archives of Neurology|August 17, 1999
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 geneA Sáenz, J Galán, C Caloustian, et al.
Annals of Neurology|February 16, 1999
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10qJ J Poza, A Sáenz, A Martínez-Gil, et al.
Brain : a Journal of Neurology|October 8, 1998
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)M Urtasun, A Sáenz, C Roudaut, et al.
The British Journal of Dermatology|November 21, 2013
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational studyC Chiaverini, A Charlesworth, A Fernandez, et al.
Neurology|June 11, 2003
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndromeM R Donaldson, J L Jensen, M Tristani-Firouzi, et al.
Brain : a Journal of Neurology|February 4, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Sáenz, F Leturcq, A M Cobo, et al.
American Journal of Human Genetics|May 20, 1999
Calpainopathy-a survey of mutations and polymorphismsI Richard, C Roudaut, A Saenz, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Neuromuscular Disorders : NMD|December 4, 2001
Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentationD Figarella-Branger, M El-Dassouki, A Saenz, et al.
Revista De Neurologia|April 2, 1999
[Alterations in functional proteins. Calpaine-3 deficiency]A López de Munain, A Urtasun, J J Poza, et al.
Psychological Medicine|July 25, 2009
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1A Sistiaga, I Urreta, M Jodar, et al.
Archives of Neurology|August 17, 1999
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 geneA Sáenz, J Galán, C Caloustian, et al.
Annals of Neurology|February 16, 1999
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10qJ J Poza, A Sáenz, A Martínez-Gil, et al.
Brain : a Journal of Neurology|October 8, 1998
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)M Urtasun, A Sáenz, C Roudaut, et al.
The British Journal of Dermatology|November 21, 2013
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational studyC Chiaverini, A Charlesworth, A Fernandez, et al.
Neurology|June 11, 2003
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndromeM R Donaldson, J L Jensen, M Tristani-Firouzi, et al.
Brain : a Journal of Neurology|February 4, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Sáenz, F Leturcq, A M Cobo, et al.
American Journal of Human Genetics|May 20, 1999
Calpainopathy-a survey of mutations and polymorphismsI Richard, C Roudaut, A Saenz, et al.
Pageof 4