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Angela Abicht

Showing results (51-60 of 102) with videos related to

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Brain : a Journal of Neurology|August 19, 2006
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsynJuliane S Müller, Sarah K Baumeister, Ulrike Schara, et al.
Brain : a Journal of Neurology|June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndromeEmily O'Connor, Ana Töpf, Juliane S Müller, et al.
Neuromuscular Disorders : NMD|November 5, 2013
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSKConstanze Gallenmüller, Wolfgang Müller-Felber, Marina Dusl, et al.
Journal of Clinical Neuromuscular Disease|November 26, 2024
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the LiteratureAlexander Mensch, Berit Jordan, Joachim Weis, et al.
Journal of Inherited Metabolic Disease|December 15, 2010
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsUlrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, et al.
Neuromuscular Disorders : NMD|January 8, 2021
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2PPeter Reilich, Beate Schlotter, Federica Montagnese, et al.
Clinical EEG and Neuroscience|September 27, 2019
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral CenterHannes Hoelz, Christian Herdl, Lucia Gerstl, et al.
Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.
Frontiers in Neurology|September 11, 2024
LZTR1 loss-of-function variants associated with café au lait macules with or without frecklingSvea Horn, Teresa Neuhann, Corina Hennig, et al.
Human Molecular Genetics|April 22, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathiesMenekse Oeztuerk, Sara Walli, David Muhmann, et al.
Pageof 11

Showing results (51-60 of 102) with videos related to

Sort By:
Pageof 11
Brain : a Journal of Neurology|August 19, 2006
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsynJuliane S Müller, Sarah K Baumeister, Ulrike Schara, et al.
Brain : a Journal of Neurology|June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndromeEmily O'Connor, Ana Töpf, Juliane S Müller, et al.
Neuromuscular Disorders : NMD|November 5, 2013
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSKConstanze Gallenmüller, Wolfgang Müller-Felber, Marina Dusl, et al.
Journal of Clinical Neuromuscular Disease|November 26, 2024
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the LiteratureAlexander Mensch, Berit Jordan, Joachim Weis, et al.
Journal of Inherited Metabolic Disease|December 15, 2010
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsUlrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, et al.
Neuromuscular Disorders : NMD|January 8, 2021
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2PPeter Reilich, Beate Schlotter, Federica Montagnese, et al.
Clinical EEG and Neuroscience|September 27, 2019
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral CenterHannes Hoelz, Christian Herdl, Lucia Gerstl, et al.
Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.
Frontiers in Neurology|September 11, 2024
LZTR1 loss-of-function variants associated with café au lait macules with or without frecklingSvea Horn, Teresa Neuhann, Corina Hennig, et al.
Human Molecular Genetics|April 22, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathiesMenekse Oeztuerk, Sara Walli, David Muhmann, et al.
Pageof 11