Results 151 to 160 of about 2,481 (285)

[Childhood spinal muscular atrophies].

Neurologia (Barcelona, Spain), 1997
Current knowledge of infantile spinal muscular atrophies (ISA) is reviewed by analyzing cases seen by the neurology service at Hospital Sant Joan de Déu in Barcelona from 1978 through 1986. The assessment is mainly clinical. The total number of patients is 60, as follows: 24 with severe or type I forms, 24 with intermediate or type II forms and 12 with
openaire   +1 more source

Towards a Definition of Physiologic Vulnerability in Pediatric Spine Surgery: Identification of Key Risk Factors in a Cohort Study of Children With Neuromuscular Disease Undergoing Spinal Fusion. [PDF]

Global Spine J
Ghauri MS, Rajkumar S, Stone LE, Kelly MP, Iyer RR, Bauer J, Ames CP, Newton PO, Gonda DD, Levy ML, Ravindra VM.   +10 more
europepmc   +1 more source

Efficacy of physiotherapy and aquatherapy in children with spinal muscular atrophy: a literature review [PDF]

La atrofia muscular espinal (AME) se caracteriza por ser una enfermedad autosómica recesiva que ocasiona que en la médula espinal se degeneren las neuronas motoras alfa; lo cual, conlleva a debilidad muscular proximal progresiva.
Sotelo Rospigliosi, Milagros Cristina
core  

Spinal Muscular Atrophy: Infantile and Juvenile Type

, 1979
Charles F. Barlow
semanticscholar   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Incidental findings of ectopic adrenal cortical tissue in the umbilical hernia sac and uterine wall: report of two cases in adult females. [PDF]

J Surg Case Rep
Azari-Yam A, Khorvash R.
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1680-1688, August 2025.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage? [PDF]

Orphanet J Rare Dis
Koszewicz M, Ubysz J, Dziadkowiak E, Wieczorek M, Budrewicz S.   +4 more
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1528-1547, August 2025.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients. [PDF]

Orphanet J Rare Dis
Li G, Xu K, Liu D, Wu N, Zhang TJ, Chen Y.   +5 more
europepmc   +1 more source