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Atle Melberg

Showing results (21-30 of 29) with videos related to

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Journal of Neuropathology and Experimental Neurology|August 10, 2006
POLG1 mutations associated with progressive encephalopathy in childhoodGittan Kollberg, Ali-Reza Moslemi, Niklas Darin, et al.
Muscle & Nerve|March 16, 2010
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriersJimmy Sundblom, Erik Stålberg, Maria Osterdahl, et al.
Neurogenetics|January 13, 2011
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, et al.
Human Mutation|January 26, 2013
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicingJoakim Klar, Maria Sobol, Atle Melberg, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 6, 2009
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degenerationHanna Orlén, Atle Melberg, Raili Raininko, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|November 20, 2009
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in SwedenOle B Suhr, Oluf Andersen, Thomas Aronsson, et al.
Lancet (London, England)|September 8, 2004
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic studyPetri Luoma, Atle Melberg, Juha O Rinne, et al.
Human Molecular Genetics|February 14, 2012
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann, Ling Lin, Barbara Schormair, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Journal of Neuropathology and Experimental Neurology|August 10, 2006
POLG1 mutations associated with progressive encephalopathy in childhoodGittan Kollberg, Ali-Reza Moslemi, Niklas Darin, et al.
Muscle & Nerve|March 16, 2010
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriersJimmy Sundblom, Erik Stålberg, Maria Osterdahl, et al.
Neurogenetics|January 13, 2011
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, et al.
Human Mutation|January 26, 2013
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicingJoakim Klar, Maria Sobol, Atle Melberg, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 6, 2009
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degenerationHanna Orlén, Atle Melberg, Raili Raininko, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|November 20, 2009
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in SwedenOle B Suhr, Oluf Andersen, Thomas Aronsson, et al.
Lancet (London, England)|September 8, 2004
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic studyPetri Luoma, Atle Melberg, Juha O Rinne, et al.
Human Molecular Genetics|February 14, 2012
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann, Ling Lin, Barbara Schormair, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Pageof 3