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Beril Talim

Showing results (101-110 of 118) with videos related to

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Neuromuscular Disorders : NMD|August 9, 2005
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centersMariz Vainzof, Pascale Richard, Ralf Herrmann, et al.
Brain Pathology (Zurich, Switzerland)|August 12, 2008
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, et al.
Neuromuscular Disorders : NMD|January 11, 2005
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The NetherlandsLuba Kalaydjieva, Hanns Lochmüller, Ivailo Tournev, et al.
Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
The New England Journal of Medicine|March 11, 2011
A dystroglycan mutation associated with limb-girdle muscular dystrophyYuji Hara, Burcu Balci-Hayta, Takako Yoshida-Moriguchi, et al.
Human Molecular Genetics|September 15, 2018
Bi-allelic mutations in MYL1 cause a severe congenital myopathyGianina Ravenscroft, Irina T Zaharieva, Carlo A Bortolotti, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
American Journal of Human Genetics|June 14, 2011
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesisSatomi Mitsuhashi, Aya Ohkuma, Beril Talim, et al.
Pageof 12

Showing results (101-110 of 118) with videos related to

Sort By:
Pageof 12
Neuromuscular Disorders : NMD|August 9, 2005
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centersMariz Vainzof, Pascale Richard, Ralf Herrmann, et al.
Brain Pathology (Zurich, Switzerland)|August 12, 2008
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, et al.
Neuromuscular Disorders : NMD|January 11, 2005
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The NetherlandsLuba Kalaydjieva, Hanns Lochmüller, Ivailo Tournev, et al.
Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
The New England Journal of Medicine|March 11, 2011
A dystroglycan mutation associated with limb-girdle muscular dystrophyYuji Hara, Burcu Balci-Hayta, Takako Yoshida-Moriguchi, et al.
Human Molecular Genetics|September 15, 2018
Bi-allelic mutations in MYL1 cause a severe congenital myopathyGianina Ravenscroft, Irina T Zaharieva, Carlo A Bortolotti, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
American Journal of Human Genetics|June 14, 2011
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesisSatomi Mitsuhashi, Aya Ohkuma, Beril Talim, et al.
Pageof 12