Results 91 to 100 of about 13,407 (248)

Ocular sequelae from the illicit use of class A drugs [PDF]

, 2004
Aim: To highlight the changes that may take place in the visual system of the class A drug abuser. Methods: A literature review was carried out of ocular/visual sequelae of the more common class A drugs.
Firth, A.Y.
core  

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Miller Fisher Variant of Guillain-Barré Syndrome: A Case Report & Clinical Review

Bangabandhu Sheikh Mujib Medical University Journal, 2012
Miller Fisher syndrome (MFS) is an uncommon variant of Guillain-Barré syndrome (GBS). It is characterized by external ophthalmoplegia, ataxia, and areflexia. The incidence of MFS as a proportion of GBS was reported to be 1 to 5 % in western countries and
Partha Pratim Das, Sarmistha Biswash, Md. Enamul Karim, Nigar Sultana Ahmed, Badrul Islam, Shekhar Kumar Mandal, Abu Hena Md. Raihanuzzaman Sarkar   +6 more
doaj   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Hereditary Inclusion Body Myopathy

Pediatric Neurology Briefs, 1998
A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital,
J Gordon Millichap
doaj   +1 more source

Mitochondrial disease and endocrine dysfunction [PDF]

, 2017
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC, Chow, J, Dattani, MT, Rahman, J, Rahman, S   +4 more
core  

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, Volume 603, Issue 22, Page 6949-6977, November 15, 2025.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 more
wiley   +1 more source

Mitochondrial Myopathy with DNA Deletions

Pediatric Neurology Briefs, 1992
Deletions of mitochondrial DNA (mtDNA) are reported in 19 of 56 patients with mitochondrial myopathy examined in the Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN.
J Gordon Millichap
doaj   +1 more source

Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]

, 2019
The mosaic distribution of cytochrome c oxidase(+) (COX+) and COX - muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Doll, S., Geyer, P., Klopstock, T., Mann, M., Murgia, M., Tan, J.   +5 more
core   +3 more sources

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source