Results 51 to 60 of about 2,317 (179)

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

Arquivos de Neuro-Psiquiatria, 2006
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic
Mauro Nakayama, Daniel G.F. Távora, Thereza C.L. Alvim, Alexandre C.B. Araújo, Rômulo L. Gama   +4 more
doaj   +1 more source

Monoaminergic Neuropathology in Alzheimer's disease [PDF]

, 2016
Acknowledgments This work was supported by The Croatian Science Foundation grant. no. IP-2014-09-9730 (“Tau protein hyperphosphorylation, aggregation, and trans-synaptic transfer in Alzheimer’s disease: cerebrospinal fluid analysis and assessment of ...
Bažadona, Danira, Buée, Luc, Delalle, Ivana, Giovanni, Giuseppe Di, Harrington, Charles R., Hof, Patrick R., Jovanov-Milošević, Nataša, Leko, Mirjana Babić, Silva, Rohan de, Wischik, Claude M., Wray, Selina, Šimić, Goran   +11 more
core   +1 more source

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source

Дентальні маркери дерматологічних захворювань [PDF]

, 2010
Кожные болезни могут быть связаны с широким разнообразием стоматологических проявлений, которые должны быть знакомы и дерматологам, и стоматологам. Стоматологические проявления связаны с широким спектром заболеваний кожи, которые включают генетические ...
Галникіна, С.О., Стасюк, М.Б.   +1 more
core  

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

Síndrome Pellizaeus-Merzbacher, Sjogren-Larsson [PDF]

, 1993
Se presenta un extraño caso de Síndrome de Pellizaeus Merzbacher, asociado a un Síndrome de Sjogren-Larsson en una niña ciega puertorriqueña de 16 años con retraso mental y parálisis espástica. La asociación entre ambos síndromes es genética, debido a la
Corpas Pastor, Luis, Machuca Portillo, María del Carmen   +1 more
core  

Farnesyl Phosphatase, a Corpora allata Enzyme Involved in Juvenile Hormone Biosynthesis in Aedes aegypti [PDF]

, 2013
Background: The juvenile hormones (JHs) are sesquiterpenoid compounds that play a central role in insect reproduction, development and behavior. The late steps of JH III biosynthesis in the mosquito Aedes aegypti involve the hydrolysis of farnesyl ...
Clifton, Mark E., Mayoral, Jamie G., Noriega, Fernando G., Nouzova, Marcela, Nyati, Pratik, Rivera-Perez, Crisalejandra   +5 more
core   +3 more sources

Sjogren Larsson Syndrome in Twins: Case Report

Journal of Skin and Stem Cell, 2023
Introduction: Sjogren-Larsson syndrome is a rare autosomal neurocutaneous disease, dermatologically manifested by congenital ichthyosis, associated with para/tetraplegia and developmental delay. Case Presentation: We present the case of two triplet patients, a girl, and a boy, 3 months old, admitted to the intensive care unit (ICU) due to respiratory ...
Gabriela Roncada Haddad, Mariana Righetto de Re Lai, Mariana Lopes Amaral Barbosa, Andre Luis Moura Balbino   +3 more
openaire   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source