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A. Abicht · SciRah

Researcher profile · Semantic Scholar

A. Abicht

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A. Abicht — researcher profile on SciRah

h-index: 35
Works: 161
Citations: 4,078

Most-cited papers

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency
R. Taylor, A. Pyle, H. Griffin, E. Blakely +25 more
2014Journal of the American Medical Association (JAMA)354 citations Open access
Semantic Scholar
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
S. Nicole, A. Chaouch, T. Torbergsen, S. Bauché +22 more
2014Brain : a journal of neurology96 citations Open access
Semantic Scholar
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
A. Chaouch, Vito Porcelli, D. Cox, S. Edvardson +21 more
2014Journal of Neuromuscular Diseases91 citations Open access
Semantic Scholar
Molecular characterization of congenital myasthenic syndromes in Spain.
D. Benito, A. Töpf, J. Vílchez, L. González-Quereda +27 more
2017Neuromuscular Disorders77 citations Open access
Semantic Scholar
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
C. Gallenmüller, W. Müller-Felber, M. Dusl, R. Stucka +7 more
2014Neuromuscular Disorders59 citations Open access
Semantic Scholar
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
E. O'Connor, A. Töpf, J. Müller, D. Cox +8 more
2016Brain : a journal of neurology54 citations Open access
Semantic Scholar
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes
G. McMacken, A. Abicht, T. Evangelista, S. Spendiff +1 more
2017Neuropediatrics46 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics42 citations Open access
Semantic Scholar
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
M. Dusl, J. Senderek, J. Müller, Johannes G Vogel +5 more
2015Human Molecular Genetics39 citations
Semantic Scholar
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
G. McMacken, R. Whittaker, T. Evangelista, A. Abicht +2 more
2017Journal of Neurology38 citations Open access
Semantic Scholar
Mitochondrial dysfunction in liver failure requiring transplantation
Maria Lane, Veronika Boczonadi, Sahar Bachtari, A. Gomez-Duran +9 more
2016Journal of Inherited Metabolic Disease36 citations Open access
Semantic Scholar
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Hannes Erdmann, F. Schöberl, M. Giurgiu, Rafaela Magalhaes Leal Silva +15 more
2022Brain : a journal of neurology35 citations
Semantic Scholar
Impact on Clinical Decision Making of Next-generation Sequencing (NGS) in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center
H. Hölz, Christian Herdl, L. Gerstl, M. Tacke +8 more
2019Neuropediatrics35 citations
Semantic Scholar
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency
M. Elbracht, M. Mull, N. Wagner, C. Kuhl +4 more
2016Neuropediatrics35 citations
Semantic Scholar
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia +5 more
2016Orphanet Journal of Rare Diseases32 citations Open access
Semantic Scholar
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
K. Claeys, A. Abicht, M. Häusler, S. Kleinle +4 more
2016Muscle and Nerve31 citations Open access
Semantic Scholar
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations
T. Harasim, T. Neuhann, A. Behnecke, Miriam Stampfer +2 more
2022Journal of Clinical Medicine30 citations Open access
Semantic Scholar
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
I. Diebold, Ulrike Schön, R. Horvath, O. Schwartz +3 more
2019Molecular and Cellular Probes29 citations
Semantic Scholar
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain
Jian-Ying Huang, M. Estacion, P. Zhao, Fadia B. Dib-Hajj +6 more
2019Frontiers in Neuroscience29 citations Open access
Semantic Scholar
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, A. Benet-Pagès +18 more
2022Brain : a journal of neurology27 citations
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar
Differential diagnosis of vacuolar myopathies in the NGS era
D. Mair, S. Biskup, W. Kress, A. Abicht +10 more
2020Brain Pathology26 citations Open access
Semantic Scholar
Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
A. Abicht, Florentine Scharf, S. Kleinle, Ulrike Schön +4 more
2018Molecular Genetics & Genomic Medicine26 citations Open access
Semantic Scholar
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
A. Della Marina, E. Wibbeler, A. Abicht, H. Kölbel +3 more
2020Frontiers in Human Neuroscience25 citations Open access
Semantic Scholar
Respiratory chain deficiency in nonmitochondrial disease
A. Pyle, H. Nightingale, H. Griffin, A. Abicht +13 more
2015Neurology: Genetics25 citations Open access
Semantic Scholar
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy
S. Suriyanarayanan, M. Auranen, J. Toppila, A. Paetau +12 more
2015Neuromolecular medicine22 citations
Semantic Scholar
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
J. Henkel, A. Laner, M. Locher, T. Wohlfrom +6 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
C. Köhler, C. Heyer, S. Hoffjan, S. Stemmler +8 more
2015Molecular and Cellular Probes21 citations
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, Thanin Wechapinan +15 more
2020Journal of clinical neuroscience20 citations
Semantic Scholar
ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment
Anne K. Braczynski, S. Vlaho, Klaus Müller, I. Wittig +13 more
2015BioMed Research International20 citations Open access
Semantic Scholar
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II
A. Rosenbohm, S. Süssmuth, J. Kassubek, Hans-Peter Müller +5 more
2014Muscle and Nerve19 citations
Semantic Scholar
Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
A. Thimm, A. Rahal, U. Schoen, A. Abicht +4 more
2020Journal of the peripheral nervous system18 citations
Semantic Scholar
Congenital myasthenic syndrome caused by novel COL13A1 mutations
M. Dusl, T. Moreno, F. Munell, A. Macaya +5 more
2019Journal of Neurology18 citations
Semantic Scholar
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy
K. Eggermann, D. Gläser, A. Abicht, B. Wirth
2020Medizinische Genetik16 citations Open access
Semantic Scholar
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
R. Thompson, A. Abicht, D. Beeson, A. Engel +3 more
2018Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
Elena Ikenberg, I. Karin, B. Ertl-Wagner, A. Abicht +5 more
2017Neuromuscular Disorders16 citations
Semantic Scholar
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
Roberta Brusa, F. Magri, D. Papadimitriou, A. Govoni +12 more
2018Neuromuscular Disorders14 citations
Semantic Scholar
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, H. Tajsharghi, E. G. Karimiani +97 more
2023Brain : a journal of neurology13 citations Open access
Semantic Scholar
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
B. Schrank, B. Schoser, T. Klopstock, P. Schneiderat +4 more
2017Neuromuscular Disorders13 citations Open access
Semantic Scholar
Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants
R. Dilena, A. Abicht, P. Sergi, G. Comi +5 more
2014Journal of Child Neurology13 citations
Semantic Scholar
Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
Florian Schöberl, A. Abicht, C. Kuepper, Stefan Voelk +8 more
2021Journal of Neurology12 citations Open access
Semantic Scholar
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
Elena Ikenberg, P. Reilich, A. Abicht, Corina Heller +2 more
2019Neuromuscular Disorders12 citations
Semantic Scholar
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease
A. Gangfuss, Andreas Hentschel, Nina Rademacher, A. Sickmann +10 more
2022Human Mutation11 citations Open access
Semantic Scholar
Characteristic clinical and ultrastructural findings in nesprinopathies.
H. Kölbel, A. Abicht, O. Schwartz, I. Katona +4 more
2019European journal of paediatric neurology11 citations
Semantic Scholar
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Ponghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, Thanin Wechapinan +11 more
2020Gene10 citations
Semantic Scholar
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants
M. Eckenweiler, J. Mayr, S. Grünert, A. Abicht +1 more
2020Neuropediatrics9 citations
Semantic Scholar
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters
Eva-Katharina Willimsky, A. Munzig, K. Mayer, S. Biskup +10 more
2020Neuropediatrics8 citations Open access
Semantic Scholar
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
S. Kleinle, Veronika Scholz, A. Benet-Pagès, T. Wohlfrom +21 more
2023Journal of Neuromuscular Diseases7 citations Open access
Semantic Scholar
Human Mutation
I. Diebold, Ulrike Schön, Florentine Scharf, A. Benet +5 more
20207 citations
Semantic Scholar

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