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Number of items: 7.

Journal article

Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna; Diebold, Isabel (2018): Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. In: Molecular Genetics & Genomic Medicine

Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke; Augustis, Sarunas (2017): Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. In: Neuromuscular Disorders, Vol. 27, No. 5: pp. 473-476

Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter; Walter, Maggie C. (2017): Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. In: Neuromuscular Disorders, Vol. 27, No. 9: pp. 856-860

Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C.; Hornemann, Thorsten; Ylikallio, Emil (2016): The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. In: Neuromolecular Medicine, Vol. 18, No. 1: pp. 81-90

O'Connor, Emily; Töpf, Ana; Müller, Juliane S.; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H.; Lochmüller, Hanns (2016): Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. In: Brain, Vol. 139: pp. 2143-2153

Dilena, Robertino; Abicht, Angela; Sergi, Paola; Comi, Giacomo P.; Di Fonzo, Alessio; Chidini, Giovanna; Natacci, Federica; Barbieri, Sergio; Lochmüller, Hanns (2014): Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants. Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis. In: Journal of Child Neurology, Vol. 29, No. 3: pp. 389-393 [PDF, 161kB]

Horváth, R.; Klopstock, Thomas; Jaksch, M.; Holinski-Feder, E.; Abicht, Angela; Lochmüller, Hans; Laner, A.; Gempel, K.; Prokisch, H. (2006): Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). In: Journal of Neurology, Neurosurgery & Psychiatry, Vol. 77, No. 1: pp. 74-76 [PDF, 78kB]

This list was generated on Fri Apr 19 05:27:52 2019 CEST.