ArticleNeurology. Genetics2023
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
6.8field-weighted citation impact, top 2% of its field
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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.Human mutation · 2026Article
- Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.Skeletal muscle · 2025Article
- Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.Healthcare (Basel, Switzerland) · 2024Review
- Generation of a novel mouse model of nemaline myopathy due to recurrentResearch square · 2024Article
- Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.Genome biology · 2024Article
- Nemaline myopathy with scoliosis: a case report.Frontiers in pediatrics · 2024Article
- Article
- WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.Annals of clinical and translational neurology · 2023Observational
- Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force.International journal of molecular sciences · 2023Article
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Authors and funding
14 authors at 1 institution in 2 countries.
Cristiane Araujo Martins MorenoDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.ORCID https://orcid.org/0000-0002-5867-6359
Mariana Cunha ArtilheiroDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Alulin Tacio Quadros Santos Monteiro FonsecaDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Clara Gontijo CameloDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Gisele Chagas de MedeirosDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Fernanda Chiarion SassiDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Claudia Regina Furquim de AndradeDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Sandra DonkervoortDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Andre Macedo Serafim SilvaDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Luiz Dalfior-JuniorDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Osorio Lopes Abath-NetoDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Umbertina Conti ReedDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Carsten BönnemannDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.ORCID https://orcid.org/0000-0002-5930-2324
Edmar ZanoteliDepartment of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Universidade de São Paulo · BR
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MAbstract
Background and Objectives: Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in Methods: Clinical and genetic data from patients with NM-NEB followed up in one specialized center were collected through regular consultations. Patients were evaluated regarding motor, bulbar, and respiratory functions. Results: Thirty-three patients with NM-NEB were evaluated consisting of 15 females and 18 males with an average age of 18 (±12) years and a median of 17 (±11) years. 32% of patients with NM-NEB used a G tube, 35% were not able to walk without support, and 55% needed VS. Scoliosis and dysphagia were more common among patients who used VS. Described for the first time, half of the patients presented tongue atrophy in a triple furrow pattern, and the presence of the atrophy was associated with dysphagia. Comparing the patients grouped by age, we found that, proportionally, older patients had more scoliosis and respiratory dysfunction than younger groups, suggesting the progression of the disease in these domains. In addition to that, we showed that VS use was associated with scoliosis and dysphagia. Discussion: NM-NEB is a very debilitating disease. There is an association between scoliosis and respiratory dysfunction while patients using VS have more often scoliosis than the no-VS group. Triple furrow tongue atrophy is a novel and frequent finding, which is directly associated with dysphagia. Grouping patients by age suggested disease stability in motor and swallow function, but a progression in respiratory dysfunction and skeletal deformities. All observations are relevant in the management care of patients with NM.
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