Late-onset sporadic nemaline myopathy presenting as hypercapnic respiratory failure

Late-onset sporadic nemaline myopathy presenting as hypercapnic respiratory failure

Bibliographic Details
Main Authors:	D.A. García Estévez, A. Juanatey-García, B. San Millán Tejado, F. Barros Angueira
Format:	Article
Language:	English
Published:	Elsevier España 2024-01-01
Series:	Neurología (English Edition)
Online Access:	http://www.sciencedirect.com/science/article/pii/S2173580823000639

Similar Items

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?
by: Menachem Sadeh, et al.
Published: (2024-11-01)

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach
by: Chandana Madala, et al.
Published: (2024-01-01)

Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
by: Stefan Nicolau, et al.
Published: (2023-01-01)

Nemaline Myopathy: Respiratory Failure
by: J Gordon Millichap
Published: (1991-03-01)

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
by: Lukas J. Schnitzler, et al.
Published: (2017-05-01)

Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness
by: Shereen Paramalingam, et al.
Published: (2019-04-01)

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
by: Anirban Nandy, et al.
Published: (2023-06-01)

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report
by: Matthias Türk, et al.
Published: (2019-11-01)

Impact of hematologic complete response in the treatment of sporadic late‐onset nemaline myopathy associated with monoclonal gammopathy
by: Tânia Maia, et al.
Published: (2021-07-01)

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability
by: André Truffert, et al.
Published: (2020-09-01)

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
by: Eiji Matsuura, et al.
Published: (2023-05-01)

Nemaline Myopathy
by: J Gordon Millichap
Published: (1988-11-01)

Respiratory treatment in a patient with nemaline myopathy
by: Massimiliano Polastri, et al.
Published: (2019-12-01)

Congenital Nemaline Myopathy
by: J Gordon Millichap
Published: (1994-02-01)

Dominantly Inherited Nemaline Myopathy
by: J Gordon Millichap
Published: (2003-08-01)

Nemaline Myopathy: Clinical Study
by: J Gordon Millichap
Published: (2001-10-01)

Late-Onset Pompe Disease with Nemaline Bodies
by: E. Frezza, et al.
Published: (2018-01-01)

Nemaline myopathy with scoliosis: a case report
by: Jin Huang, et al.
Published: (2024-10-01)

Clinical Course of Dysphagia in Patients with Nemaline Myopathy
by: Yeun Jie Yoo, et al.
Published: (2022-08-01)

Case Report: Prenatal Diagnosis of Nemaline Myopathy
by: Dongmei Liu, et al.
Published: (2022-07-01)

Rare nemaline myopathy (a case report)
by: Nikolai S. Migalkin, et al.
Published: (2022-10-01)

Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases
by: Chao Jiang, et al.
Published: (2012-01-01)

An unusual case of hypercapnic respiratory failure
by: Nimeh Najjar, et al.
Published: (2018-01-01)

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
by: Luke Perry, et al.
Published: (2023-07-01)

Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy
by: Diana Maria Ronderos-Botero, et al.
Published: (2022-11-01)

Uterine Sarcoma Presenting as Hypercapnic Respiratory Failure
by: Kimberly Boldig, et al.
Published: (2022-05-01)

neb: a zebrafish model of nemaline myopathy due to nebulin mutation
by: William R. Telfer, et al.
Published: (2012-05-01)

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies
by: Rocío Piñero-Pérez, et al.
Published: (2023-11-01)

The successful treatment of hypercapnic respiratory failure with oral modafinil
by: Parnell H, et al.
Published: (2014-04-01)

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
by: Seferian, AM, et al.
Published: (2016)

Motor neuron disease presenting with acute hypercapnic respiratory failure
by: H Moola, et al.
Published: (2023-04-01)

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report
by: Sinem Akbay, et al.
Published: (2019-12-01)

Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
by: Q.C. Wu, et al.
Published: (2020-12-01)

Role of bronchoscopy during non invasive ventilation in hypercapnic respiratory failure
by: W. Rady, et al.
Published: (2014-10-01)

A challenging case of hypercapnic respiratory failure during pregnancy.
by: Vijayakumar, B, et al.
Published: (2020)

Factors Affecting the Length of Hospital Stay in Hypercapnic Respiratory Failure
by: Maşide Ari, et al.
Published: (2024-12-01)

The use of continuous Flow Ventilatory Support for Hypercapnic Respiratory Failure
by: P. Kapraľová, et al.
Published: (2019-11-01)

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
by: Tamar E. Sztal, et al.
Published: (2018-05-01)

Staff training influence on non-invasive ventilation outcome for acute hypercapnic respiratory failure
by: J.L. Lopez-Campos, et al.
Published: (2016-02-01)

Sporadic, late-onset, and multistage diseases
by: Webster, AJ, et al.
Published: (2022)