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H Topaloglu

Showing results (41-50 of 69) with videos related to

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Neuropediatrics|June 15, 2006
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosumA Olmez, G Uyanik, R K Ozgül, et al.
Neuromuscular Disorders : NMD|November 2, 1999
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndromeB Moghadaszadeh, H Topaloglu, L Merlini, et al.
Human Genetics|April 1, 1997
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophyI Naom, M D'Alessandro, C Sewry, et al.
Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
American Journal of Human Genetics|June 1, 1996
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the proteinM Nissinen, A Helbling-Leclerc, X Zhang, et al.
Nature Genetics|August 31, 2001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeB Moghadaszadeh, N Petit, C Jaillard, et al.
Nature Genetics|November 4, 2000
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyP Bomont, L Cavalier, F Blondeau, et al.
Journal of Medical Genetics|February 1, 1997
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyI S Naom, M D'Alessandro, H Topaloglu, et al.
Neurology|April 12, 2006
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromeG Uyanik, N Elcioglu, J Penzien, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2005
Giant axonal neuropathy: clinical and genetic study in six casesE Demir, P Bomont, S Erdem, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Neuropediatrics|June 15, 2006
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosumA Olmez, G Uyanik, R K Ozgül, et al.
Neuromuscular Disorders : NMD|November 2, 1999
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndromeB Moghadaszadeh, H Topaloglu, L Merlini, et al.
Human Genetics|April 1, 1997
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophyI Naom, M D'Alessandro, C Sewry, et al.
Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
American Journal of Human Genetics|June 1, 1996
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the proteinM Nissinen, A Helbling-Leclerc, X Zhang, et al.
Nature Genetics|August 31, 2001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeB Moghadaszadeh, N Petit, C Jaillard, et al.
Nature Genetics|November 4, 2000
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyP Bomont, L Cavalier, F Blondeau, et al.
Journal of Medical Genetics|February 1, 1997
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyI S Naom, M D'Alessandro, H Topaloglu, et al.
Neurology|April 12, 2006
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromeG Uyanik, N Elcioglu, J Penzien, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2005
Giant axonal neuropathy: clinical and genetic study in six casesE Demir, P Bomont, S Erdem, et al.
Pageof 7