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Ibrahim Mahjneh

Showing results (11-20 of 22) with videos related to

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Neuromuscular Disorders : NMD|August 10, 2010
A new distal myopathy with mutation in anoctamin 5Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, et al.
Neuromuscular Disorders : NMD|March 8, 2011
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locusPeter Hackman, Satu Sandell, Jaakko Sarparanta, et al.
Neuromuscular Disorders : NMD|March 24, 2004
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)Henna Haravuori, H Annika Siitonen, Ibrahim Mahjneh, et al.
Duodecim; Laaketieteellinen Aikakauskirja|November 23, 2006
[Not Available]Olayinka Raheem, Tiina Suominen, Peter Hackman, et al.
Cell Death Discovery|July 26, 2019
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cellsGoutam Chandra, Aurelia Defour, Kamel Mamchoui, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Traffic (Copenhagen, Denmark)|November 30, 2006
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defectJyoti K Jaiswal, Gareth Marlow, Gillian Summerill, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Nature Genetics|November 12, 2005
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|August 10, 2010
A new distal myopathy with mutation in anoctamin 5Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, et al.
Neuromuscular Disorders : NMD|March 8, 2011
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locusPeter Hackman, Satu Sandell, Jaakko Sarparanta, et al.
Neuromuscular Disorders : NMD|March 24, 2004
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)Henna Haravuori, H Annika Siitonen, Ibrahim Mahjneh, et al.
Duodecim; Laaketieteellinen Aikakauskirja|November 23, 2006
[Not Available]Olayinka Raheem, Tiina Suominen, Peter Hackman, et al.
Cell Death Discovery|July 26, 2019
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cellsGoutam Chandra, Aurelia Defour, Kamel Mamchoui, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Traffic (Copenhagen, Denmark)|November 30, 2006
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defectJyoti K Jaiswal, Gareth Marlow, Gillian Summerill, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Nature Genetics|November 12, 2005
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, et al.
Pageof 3