Results 51 to 60 of about 69,426 (175)

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

, 2008
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis ...
Coons, Stephen, Sivakumar, Kumaraswamy, Bien-Wilner, Ricardo, Johnsen, Stanley, Sambuughin, Nyamkhishig, Ladha, Shafeeq S.   +5 more
core   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Nemaline myopathy: clinical, histochemical and immunohistochemical features Miopatia nemalínica: achados clínicos, histoquímicos e imuno-histoquímicos

Arquivos de Neuro-Psiquiatria, 2009
Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life.
Nazah Cherif Mohamad Youssef, Rosana Herminia Scola, Paulo José Lorenzoni, Lineu César Werneck   +3 more
doaj   +1 more source

The three-dimensional structure of the nemaline rod Z-band. [PDF]

The Journal of cell biology, 1990
In nemaline myopathy and some cardiac muscles, the Z-band becomes greatly enlarged and contains multiple layers of a zigzag structure similar to that seen in normal muscle. Because of the additional periodicity in the direction of the filament axis, these structures are particularly favorable for three-dimensional analysis since it becomes possible to ...
E P, Morris, G, Nneji, J M, Squire
openaire   +2 more sources

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

, 2007
OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital ...
Ohlsson, Monica,, Oldfors, Anders,, Tajsharghi, Homa,, Lindberg, Christopher,   +3 more
core   +1 more source

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature

, 2017
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers.
Reed, Umbertina Conti, Carsten Bönnemann, Sandra Donkervoort, Umbertina Conti Reed, Hu, Ying, Osório Abath Neto, Edmar Zanoteli, Bulle Oliveira, Acary Sousa [UNIFESP], Zanoteli, Edmar, Martins Moreno, Cristiane de Araujo, Donkervoort, Sandra, Bonnemann, Carsten, Cristiane de Araújo Martins Moreno, Ying Hu, Neto, Osorio Abath, Acary Sousa Bulle Oliveira   +15 more
core   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Dietary L-tyrosine supplementation in Nemaline myopathy

, 2008
Copyright © 2008 Sage PublicationsNemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy. Facial and bulbar weakness in nemaline myopathy cause chewing and swallowing difficulties, recurrent aspiration, and poor ...
Ryan, M., Rudge, S., Iannaccone, S., Sy, C., Roddick, L., Ellaway, C., Kornberg, A., Ketteridge, D., North, K.   +8 more
core   +1 more source

Autosomal Dominant Missense DAG1 Variant Linked to Mild–Moderate LGMD R16

Human Mutation, Volume 2026, Issue 1, 2026.
Limb‐girdle muscular dystrophies (LGMDs) are disorders with an important clinical heterogeneity, usually involving proximal limb muscles. One subtype, LGMD R16 (LGMD 2P), is an autosomal recessive condition caused by pathogenic variants in DAG1, with clinical presentations ranging from mild to extremely severe forms.
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, Andreea Dumitrescu, Luca Sali, Alexandra Bastian, Hane Lee, Homa Tajsharghi, Camille Verebi, Juliette Nectoux, France Leturcq, Rahul Phadke, Anna Sarkozy, Adnan Manzur, Redouane Fodil, Amelia Dobrescu, Miklos Sahin -Toth   +16 more
wiley   +1 more source