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Ana Topf

Showing results (1-10 of 32) with videos related to

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Neuromuscular Disorders : NMD|December 10, 2016
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutationsElizabeth Harris, Meriel McEntagart, Ana Topf, et al.
Neurology. Genetics|October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the RuleKristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Plos One|December 11, 2013
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmentiRachel E Towers, Leonardo Murgiano, David S Millar, et al.
Neuromuscular Disorders : NMD|May 26, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityJanis Stavusis, Ieva Micule, Nathan T Wright, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Cell Calcium|May 31, 2022
STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca<sup>2+</sup>-entry modulators CIC-37 and CIC-39Beatrice Riva, Emanuela Pessolano, Edoardo Quaglia, et al.
Heart (British Cardiac Society)|April 2, 2010
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresiaKlaartje van Engelen, Ana Topf, Bernard D Keavney, et al.
Journal of Neuromuscular Diseases|August 9, 2024
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyAndreas Roos, Martin Häusler, Laxmikanth Kollipara, et al.
Pageof 4

Showing results (1-10 of 32) with videos related to

Sort By:
Pageof 4
Neuromuscular Disorders : NMD|December 10, 2016
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutationsElizabeth Harris, Meriel McEntagart, Ana Topf, et al.
Neurology. Genetics|October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the RuleKristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Plos One|December 11, 2013
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmentiRachel E Towers, Leonardo Murgiano, David S Millar, et al.
Neuromuscular Disorders : NMD|May 26, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityJanis Stavusis, Ieva Micule, Nathan T Wright, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Cell Calcium|May 31, 2022
STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca<sup>2+</sup>-entry modulators CIC-37 and CIC-39Beatrice Riva, Emanuela Pessolano, Edoardo Quaglia, et al.
Heart (British Cardiac Society)|April 2, 2010
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresiaKlaartje van Engelen, Ana Topf, Bernard D Keavney, et al.
Journal of Neuromuscular Diseases|August 9, 2024
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyAndreas Roos, Martin Häusler, Laxmikanth Kollipara, et al.
Pageof 4