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O. Abath · SciRah

Researcher profile · Semantic Scholar

O. Abath

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O. Abath — researcher profile on SciRah

h-index: 12
Works: 17
Citations: 329

Most-cited papers

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
V. Biancalana, Sophie Scheidecker, M. Miguet, A. Laquérriere +40 more
2017Acta Neuropathologica58 citations
Semantic Scholar
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
G. O'Grady, H. Best, Tamar E. Sztal, V. Schartner +38 more
2016American Journal of Human Genetics56 citations Open access
Semantic Scholar
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
O. Abath, Cristiane de Araújo Martins Moreno, E. Malfatti, S. Donkervoort +33 more
2017Neuromuscular Disorders45 citations
Semantic Scholar
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
C. Labasse, G. Brochier, A. Taratuto, B. Cadot +26 more
2022Acta Neuropathologica Communications28 citations Open access
Semantic Scholar
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Cristiane de Araújo Martins Moreno, O. Abath, S. Donkervoort, Ying Hu +4 more
2017Pediatric Neurology25 citations
Semantic Scholar
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
O. Abath, Marina R. Silva, Cristiane de Araújo Martins, A. de Souza Bulle Oliveira +5 more
2016Pediatric Neurology18 citations
Semantic Scholar
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
E. P. Estephan, Cláudia Ferreira da Rosa Sobreira, A. C. Santos, P. Tomaselli +15 more
2018Journal of Neurology17 citations Open access
Semantic Scholar
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
J. Gurgel-Giannetti, E. Zanoteli, Eralda Luiza de Castro Concentino, O. Abath +3 more
2012Neuromuscular Disorders17 citations
Semantic Scholar
HHV‐6 and hippocampal volume in patients with mesial temporal sclerosis
Elizabeth O. Akinsoji, E. Leibovitch, B. Billioux, O. Abath +6 more
2020Annals of Clinical and Translational Neurology14 citations Open access
Semantic Scholar
Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
I. Dabaj, R. Carlier, D. Gómez-Andrés, O. Abath +22 more
2018Muscle and Nerve14 citations
Semantic Scholar
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
E. Malfatti, S. Monges, V. Lehtokari, U. Schaeffer +7 more
2015European Journal of Medical Genetics14 citations
Semantic Scholar
Limb-girdle muscular dystrophy type 2A in Brazilian children.
M. D. De Albuquerque, O. Abath, Francisco Marcos Alencar da Silva, E. Zanoteli +1 more
2015Arquivos de Neuro-Psiquiatria12 citations Open access
Semantic Scholar
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
O. Abath, C. Heise, Cristiane de Araújo Martins Moreno, E. P. Estephan +9 more
2016Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques11 citations Open access
Semantic Scholar
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
E. P. Estephan, C. Moreno, A. M. Serafim da Silva, Rodrigo de Holanda Mendonça +4 more
2016Arquivos de Neuro-Psiquiatria1 citations Open access
Semantic Scholar
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
C. Labasse, G. Brochier, A. Taratuto, B. Cadot +26 more
2022Acta Neuropathologica Communications0 citations Open access
Semantic Scholar
Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI
I. Dabaj, C. Moreno, O. Abath, E. Bertini +16 more
20160 citations
Semantic Scholar
G.P.33
O. Abath, C. Martins, U. Reed, V. Biancalana +3 more
20140 citations
Semantic Scholar

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