Results 91 to 100 of about 31,520 (324)

Deletion of PREPl causes growth impairment and hypotonia in mice.

PLoS ONE, 2014
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in ...
Anna Mari Lone, Mathias Leidl, Amanda K McFedries, James W Horner, John Creemers, Alan Saghatelian   +5 more
doaj   +1 more source

Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Clinical Case Reports, 2022
We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain, associated with the classical Ehlers–Danlos syndrome (cEDS) (OMIM#130010), in a 14‐year‐old patient who presented with congenital and severe scoliosis, muscle ...
Malika Foy, Philippe deMazancourt, Dominique Bremond Gignac, Fabrice Gillas, Nawel Trigui, Ahmed Mekki, Robert Carlier, Karelle Benistan   +7 more
doaj   +1 more source

[Muscle hypotonia in urinary tract infection and hyperphosphaturia in infants].

Pediatria polska, 1985
K Bittner, K Lubicz, J Maciejewski, Krystyna Strzykala   +3 more
openalex   +2 more sources

Indirect Estimates of Jaw Muscle Tension in Children With Suspected Hypertonia, Children With Suspected Hypotonia, and Matched Controls [PDF]

Journal of Speech, Language, and Hearing Research, 2013
PurposeIn this study, the authors compared indirect estimates of jaw-muscle tension in children with suspected muscle-tone abnormalities with age- and gender-matched controls.MethodJaw movement and muscle activation were measured in children (ages 3 years, 11 months, to 10 years) with suspected muscle-tone abnormalities (Down syndrome or spastic ...
Kathryn P, Connaghan, Christopher A, Moore   +1 more
openaire   +2 more sources

Mobility deficit – Rehabilitate, an opportunity for functionality [PDF]

, 2018
There are many pathological conditions that cause mobility deficits and that ultimately influence someone’s autonomy.Aims: to evaluate patients with mobility deficits functional status; to implement a Rehabilitation Nursing intervention plan; to monitor ...
A Mudge, A Oliveira, B Hernández, C Said, C Tipping, D Rosa, DM Moghe, G Thomsen, H Pickenbrock, J Carvalho e Silva, K Booth, K Krishnamoorthy, M Kutlubaev, M Svendsen, NB Alexander, P Azevedo, P Morris, R Buyukavci, R Hopkins, R Kneafsey, S Folden, T Kinoshita, U. H. Schmidt, VP Depaul, W Schweickert   +24 more
core   +2 more sources

Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]

, 2007
Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core  

Neonatal cardiomyopathy and lactic acidosis responsive to thiamine [PDF]

, 1991
A congestive cardiomyopathy was diagnosed in a girl at the age of 4 weeks. In the weeks following she developed general muscle hypotonia and plasma lactate increased to 8.5 mmol/L.
Abeling, N.G.G.M. (Nicolaas), Bakker, H.D. (Henk), Gennip, A.H. (A.) van, Lam, J., Luyt-Houwen, I.E.M. (I. E M), Scholte, H.R. (Hans)   +5 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso

Revista Médica Hondureña
Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder of neurodevelopment, its incidence is estimated around 1:25,000 live births.
Tatiana Martínez Lozano, Jessica Henríquez, Ascela Vásquez, Raxa Aguilar   +3 more
doaj   +1 more source

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities [PDF]

, 2017
Objective: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder.
Alston, Charlotte L., Chinnery, Patrick F., Falkous, Gavin, He, Langping, McFarland, Robert, Naismith, Karen, Pyle, Angela, Sommerville, Ewen W., Taylor, Robert W.   +8 more
core   +2 more sources