Results 21 to 30 of about 3,489,004 (303)

Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation [PDF]

BMJ Case Reports, 2012
A young man was brought for mental retardation, frequent non-bloody diarrhoea and swellings at ankles and elbow. He became bed-ridden due to cataract, mental retardation and pain in the back and lower limb. There were repeated pathological fractures and vitamin D deficiency without renal dysfunction.
N K, Agrawal, Sunny, Garg
openaire   +2 more sources

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. [PDF]

, 2018
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common
Moorthie, Sowmiya, Gibbons, Stephen, Povey, Sue, ., Congenital Disorders Expert Group, Hamamy, Hanan, Darlison, Matthew, Bittles, Alan, Blencowe, Hannah, Modell, Bernadette, Petrou, Mary, Congenital Disorders Expert Group, Blencowe H, Moorthie S, Darlison M, Petrou M, Gibbons S, Modell B, Bittles A, Povey S, Hamamy H   +19 more
core   +4 more sources

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders [PDF]

, 2012
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at ...
Assouline B., Gillberg I. C., Gillberg, C, Gillberg, I Carina, Gillberg, I.C., Mouren, M., Mouren, M-, Sequeira Ana F., Boeckers, TM, Konyukh, Marina, Chaste, P., Bolton, P, Kantojarvi, K, Kopp Marnie, Bourgeron Thomas, Konyukh Marina, Oriane Mercati, Lathrop, Mark, Leboyer, Marion, Delorme Richard, Anthony P. Monaco (184852), Råstam, Maria,, Freitag, C.M., Rastam Maria, Järvelä I., Pinto, D., Fauchereau, F., Curran Sarah, Leblond, C.S., Chiocchetti, A., Vicente, Astrid, Waltes, R., Collier, David A, Roberto Toro, Bourgeron, T, Bacchelli E., Martin Poot (184849), Poustka, F., Nygren Gudrun, Järvelä, Irma, Vanhala R., Elena Maestrini (184907), Vicente, Astrid M., Henrik Anckarsäter (184814), Järvelä Irma, Barbara Oliveira, Agatino Battaglia, Klauck S. M., Diana Zelenika (69803), Delorme, R, Marie-Christine Mouren (184946), Scherer Stephen W., Mouren Marie-Christine, Gillberg, IC, Holt Richard, Waltes R., Christian Proepper (184780), Fauchereau, Fabien, Duketis E., Fritz Poustka (184874), Oriane Mercati (184839), Klauck, Sabine M., Scherer, SW, Fauchereau Fabien, Vanhala, R, Ruta L., Collier, DA, Klauck, Sabine M, Lemière N., Oliveira, B, Mazzone, L, Oliveira, G, Mercati, O., Sequeira, Ana, F., Catalina Betancur, Marnie Kopp, Battaglia Agatino, Marion Leboyer, Boeckers, Tobias M, Skuse David, Scherer, Stephen W, Mouren M. C., Poot, Martin, Huguet, Guillaume, Mouren, M.C., Marina Konyukh, Andreas Chiocchetti (184869), Anthony P Monaco, Dominique Bonneau, Bonneau, D, Regnault, Beatrice, Leblond, Claire S., Fauchereau F., Ruta, L, Chaste, Pauline, Gillberg, Christopher, Irma Järvelä, Luigi Mazzone, Mark Lathrop, Mouren, Marie-Christine, Pinto D., Melke, Jonas,, Holt, Richard, Pauline Chaste, Guillaume Huguet (184797), Vincent Guinchat, Boeckers, Tobias, M., Guinchat Vincent, Lemière, Nathalie, Brigitte Assouline, Bolton, P., Zelenika Diana, Mazzone L., Kantojärvi Katri, Christine M. Freitag (184876), Claire S. Leblond (184759), Leblond, CS, Dominique Bonneau (144939), Raija Vanhala (184859), Oliveira G., Richard Delorme (184774), Huguet G., Raija Vanhala, Mazzone Luigi, Liliana Ruta, Anckarsäter, Henrik,, Astrid Vicente (184919), Gillberg I. Carina, Bourgeron, Thomas, Anckarsäter, H., Gudrun Nygren (184819), Bacchelli, Elena, Skuse, D., Bacchelli, E, Klauck Sabine M., Bolton Patrick, Chiocchetti A., Boeckers Tobias M., Scherer, Stephen W., Freitag, Christine,, Leblond, Claire, S., Nygren, Gudrun, Delepine Marc, Betancur, C, Leboyer M., Collier, David,, Lemière, N., Poot, M, Lund University., Leblond Claire S., Monaco, Anthony P., Gillberg, C., Poot Martin, Oliveira Barbara, Pauline Chaste (184806), Barbara Oliveira (184915), Boeckers, Tobias M., Devillard F., Chaste Pauline, Delorme R., Mouren M. -C., Melke, J., Maestrini E., Jonas Melke, Curran, S, Bonneau, Dominique, Poot M., Lemière Nathalie, Bourgeron T., Freitag Christine M., Marnie Kopp (184880), Lathrop Mark, Maestrini, Elena, Devillard, F., Mazzone, L., Assouline Brigitte, Böckers, Tobias M., Guillaume Huguet, Anckarsater, H, Oliveira B., Marie-Christine Mouren, Beatrice Regnault (5649310), Poustka Fritz, Guinchat V., Curran S., Collier, David A., Minopoli, F., Anckarsäter Henrik, Thomas Bourgeron (102497), Vanhala, Raija, Dalila Pinto (184925), David Skuse (184848), Sabine M. Klauck (184871), Delepine, Marc, Vicente, A, Nygren, Gudrun,, Collier David A., Toro Roberto, Curran, Sarah, Vanhala, R., Boeckers, Tobias,, Sequeira, AF, Ey, Elodie, Devillard, F, Collier, David, A., Sarah Curran, Brigitte Assouline (184942), Betancur C., Duketis, E, Freitag, Christine M., Oliveira Guiomar, Battaglia, A., Freitag, Christine, M., Pinto Dalila, Delorme, Richard, Stephen W Scherer, Gillberg, Christopher,, Pinto, Dalila, Chiocchetti Andreas, I. Carina Gillberg (184823), Elena Maestrini, Freitag, Christine M, Chaste P| Ey E., Henrik Anckarsäter, Guinchat, V., Bonneau, D., Battaglia, A, Kantojärvi, K., Vincent Guinchat (184933), Waltes, Regina, Jarvela, I, Holt, R., Skuse, David, Marc Delepine, Françoise Devillard, Ana F Sequeira, Rastam M., Elena Bacchelli (184887), Betancur Catalina, Tobias M Boeckers, Minopoli Fiorella, Poot, M., Mouren, M-C, Gillberg Christopher, Sequeira, Ana F., Klauck, SM, Proepper, C, Proepper, C., Jonas Melke (184828), Fiorella Minopoli (184890), Toro R., David A. Collier (184865), Leboyer, M., Devillard, Françoise, Mercati, O, Kopp, M., Melke, Jonas, Gillberg I.C., Zelenika D., Duketis Eftichia, Monaco Anthony P., Fabien Fauchereau (184835), Heinrich, J., Jutta Heinrich (184766), Delepine, M, Boeckers, T.M., Holt, R, Patrick Bolton (184868), Vanhala Raija, Fiorella Minopoli, Andreas Chiocchetti, Bacchelli, E., Monaco, A.P., Guiomar Oliveira, Christopher Gillberg, Proepper, Christian, Nygren G., Poustka, F, Skuse D., Bolton, Patrick F., Melke Jonas, Nygren, G, Guinchat, Vincent, Maestrini, E, Skuse, D, Collier D. A., Lathrop, M, Elodie Ey (184809), Kantojärvi K., Bourgeron, T., Gillberg, I. Carina, Delepine, M., Huguet, G., Agatino Battaglia (184898), Ruta, Liliana, Rastam, M., Zelenika, D, Sequeira, Ana,, Richard Holt (184851), Mercati, Oriane, Liliana Ruta (111348), Konyukh M., Klauck, S.M., Maestrini Elena, Duketis, Eftichia, Monaco, AP, Luigi Mazzone (184903), Leblond, Claire S, Scherer, Stephen,, Leblond, Claire,, Oliveira, Barbara, Guiomar Oliveira (184923), Thomas Bourgeron, Holt R., Astrid Vicente, Ana F. Sequeira (184911), Leboyer Marion, Toro, R., Leboyer, M, Heinrich, J, Mercati O., Vicente A., Heinrich J., Lathrop M., Regnault, B, Duketis, E., Waltes Regina, Kantojärvi, Katri, Lemiere, N, Maria Rastam (184811), Christine M Freitag, Konyukh, M, Regnault Beatrice, State, M., Oliveira, B., Christopher Gillberg (184954), Katri Kantojärvi (184856), Rastam, Maria, Stephen W. Scherer (137813), Sequeira A. F., Poustka F., Fauchereau, F, Assouline, B, Scherer S. W., I Carina Gillberg, Irma Järvelä (184854), Konyukh, M., Scherer, Stephen, W., Elena Bacchelli, Fritz Poustka, Sequeira, Ana F, Collier, D.A., Sequeira, A.F., Battaglia A., Elodie Ey, Richard Delorme, Toro, R, Assouline, B., Bolton, Patrick, Guinchat, V, Françoise Devillard (184938), Gillberg C., Nathalie Lemière, Järvelä, I., Jutta Heinrich, Leblond C. S., Mazzone, Luigi, Proepper Christian, Lathrop, M., Eftichia Duketis (184883), Bacchelli Elena, Betancur, Catalina, Freitag C. M., Chiocchetti, Andreas, Zelenika, Diana, Oliveira, G., Dalila Pinto, Minopoli, Fiorella, Ey Elodie, Vicente Astrid, Ruta, L., Monaco A. P., Waltes, R, Ey E., Minopoli F., Chaste, P, Toro, Roberto, Catalina Betancur (184790), Gudrun Nygren, Regina Waltes (184878), Huguet Guillaume, Sabine M Klauck, Klauck, Sabine, M., Melke, J, Tobias M. Boeckers (184958), Zelenika, D., Anckarsäter H., Proepper C., Kopp, M, Klauck, Sabine,, Marc Delepine (184928), Roberto Toro (184832), Poustka, Fritz, Huguet, G, Martin Poot, Bolton P., Delepine M., Monaco, Anthony P, Vicente, A.M., David Skuse, Bonneau D., Vicente, A., Rastam, M, Beatrice Regnault, Melke J., Kopp M., Ey, E., Heinrich, Jutta, Eftichia Duketis, Nygren, G., Heinrich Jutta, Regnault, B., Kopp, Marnie, Pinto, D, Chaste P., Maestrini, E., Katri Kantojärvi, Bonneau Dominique, Gillberg, I Carina,, Fabien Fauchereau, Mark Lathrop (17971), Minopoli, F, Anckarsäter, Henrik, Devillard Françoise, Marina Konyukh (184802), Nathalie Lemière (184844), Delorme, R., Richard Holt, Assouline, Brigitte, Maria Rastam, Oliveira, Guiomar, Freitag, CM, Regnault B., Curran, S., Christian Proepper, Ruta Liliana, Scherer, S.W., Battaglia, Agatino, Geburtig-Chiocchetti, Andreas, Marion Leboyer (184950), Patrick Bolton, Betancur, C., Regina Waltes, Diana Zelenika, Claire S Leblond, David A Collier, Sarah Curran (184863), Chiocchetti, A, Mercati Oriane, Boeckers T. M., Ey, E   +460 more
core   +1 more source

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D., He, X, Liu, Li, Xin He, State, MW, Roeder, K, Gibbs, RA, Lim, ET, Elaine T Lim, Lim, Elaine, Schellenberg, Gerard, Sanders, SJ, Schellenberg, GD, Stephan J. Sanders (446495), Gerard D Schellenberg, He, Xin, James S. Sutcliffe (262611), Sanders, Stephan J., James S Sutcliffe, Stephan J Sanders, Gibbs, Richard A., Gerard D. Schellenberg (160086), Silvia De Rubeis (446496), State, Matthew W., Sanders, Stephan, Silvia De Rubeis, Sutcliffe, JS, Mark J Daly, Williams, Scott M., Xin He (48101), Bernie Devlin (228374), Buxbaum, Joseph D., Matthew W. State (446497), Devlin, B, Joseph D. Buxbaum (144578), Mark J. Daly (210204), Bernie Devlin, Liu, L, De Rubeis, Silvia, Roeder, Kathryn, Sutcliffe, James, Buxbaum, Joseph, Gibbs, Richard, Kathryn Roeder (228381), State, Matthew, Kathryn Roeder, Elaine T. Lim (171627), Richard A. Gibbs (94141), Joseph D Buxbaum, Daly, Mark J., Sutcliffe, James S., Daly, MJ, Buxbaum, JD, Matthew W State, Li Liu, De, S, Devlin, Bernie, Richard A Gibbs, Li Liu (75607), De Rubeis, S, Daly, Mark, Lim, Elaine T.   +61 more
core   +2 more sources

RARE STROKE-RELATED PSYCHIATRIC DISORDERS [PDF]

, 2022
Stroke related adult neuropsychiatric syndromes can be classified according to four axes: behavior or personality disorders, disorders of the perception identification of the self, other people, places, and time, cognitive disintegration (acute ...
Mijić-Marić, Ankica, Bender, Marija, Bender, Bojan, Batinić, Davor, Ivanković, Anita, Davor Batinić, Anita Ivanković, Bojan Bender, Marija Bender, Ankica Mijić-Marić   +9 more
core   +1 more source

Longitudinal evolution of motor and non-motor symptoms in early-stage multiple system atrophy: a 2-year prospective cohort study

BMC Medicine, 2022
Background The progression of motor and non-motor symptoms (NMS) and the sensitivity of each item of the Unified Multiple System Atrophy Rating Scale (UMSARS) to change remain unclear in Chinese patients with early-stage multiple system atrophy (MSA). We
Lingyu Zhang, Yanbing Hou, Bei Cao, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Yongping Chen, Wei Song, Bi Zhao, Huifang Shang   +12 more
doaj   +1 more source

The improvement of motor symptoms in Huntington’s disease during cariprazine treatment

Orphanet Journal of Rare Diseases, 2023
Background Huntington’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms. Motor symptoms are the hallmark features of HD and take many forms.
Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar   +8 more
doaj   +1 more source

Abnormal eye movements in spinocerebellar ataxia type 3

BMC Neurology, 2021
Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics ...
Junyu Lin, Lingyu Zhang, Bei Cao, Qianqian Wei, Ruwei Ou, Yanbing Hou, Xinran Xu, Kuncheng Liu, Xiaojing Gu, Huifang Shang   +9 more
doaj   +1 more source

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

Disease Modeling of Rare Neurological Disorders in Zebrafish

, 2022
Rare diseases are those which affect a small number of people compared to the general population. However, many patients with a rare disease remain undiagnosed, and a large majority of rare diseases still have no form of viable treatment.
Myeongjoo Son, Cheol-Hee Kim, Dae Yu Kim
core   +1 more source