Search research articles
Contact Us
Filters
Showing results (11-20 of 102) with videos related to
Page
of 11
Sort By:
Neuromuscular Disorders : NMD
|
May 22, 2013
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
Anne-Kathrin Peyer, Angela Abicht, Karl Heinimann, et al.
Neuromuscular Disorders : NMD
|
April 18, 2019
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Elena Ikenberg, Peter Reilich, Angela Abicht, et al.
Neuropediatrics
|
September 22, 2019
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Benedikt Hofmeister, Celina von Stülpnagel, Steffen Berweck, et al.
Journal of Neurology
|
December 1, 2017
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, et al.
Journal of Clinical Medicine
|
January 21, 2022
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations
Thomas Harasim, Teresa Neuhann, Anne Behnecke, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, et al.
Molecular and Cellular Probes
|
January 26, 2019
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing
Isabel Diebold, Ulrike Schön, Rita Horvath, et al.
Orphanet Journal of Rare Diseases
|
November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
Rachel Thompson, Angela Abicht, David Beeson, et al.
Frontiers in Human Neuroscience
|
December 28, 2020
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
Adela Della Marina, Eva Wibbeler, Angela Abicht, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen, et al.
Page
of 11
Search research articles
Search
Showing results (11-20 of 102) with videos related to
Sort By:
Page
of 11
Neuromuscular Disorders : NMD
|
May 22, 2013
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
Anne-Kathrin Peyer, Angela Abicht, Karl Heinimann, et al.
Neuromuscular Disorders : NMD
|
April 18, 2019
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Elena Ikenberg, Peter Reilich, Angela Abicht, et al.
Neuropediatrics
|
September 22, 2019
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Benedikt Hofmeister, Celina von Stülpnagel, Steffen Berweck, et al.
Journal of Neurology
|
December 1, 2017
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, et al.
Journal of Clinical Medicine
|
January 21, 2022
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations
Thomas Harasim, Teresa Neuhann, Anne Behnecke, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, et al.
Molecular and Cellular Probes
|
January 26, 2019
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing
Isabel Diebold, Ulrike Schön, Rita Horvath, et al.
Orphanet Journal of Rare Diseases
|
November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
Rachel Thompson, Angela Abicht, David Beeson, et al.
Frontiers in Human Neuroscience
|
December 28, 2020
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
Adela Della Marina, Eva Wibbeler, Angela Abicht, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen, et al.
Page
of 11