Results 101 to 110 of about 990,174 (349)

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology

International Journal of Molecular Sciences, 2019
The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD).
L. Looijenga, Chia‐Sui Kao, Muhammad T. Idrees   +2 more
semanticscholar   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Disorders of sex development: Genetic characterization of a patient cohort

Molecular Medicine Reports, 2019
Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex.
Mary García-Acero, O. Moreno-Niño, F. Suárez-Obando, Mónica Molina, M. Manotas, J. Prieto, Catalina Forero, Camila Céspedes, Jaime Pérez, N. Fernández, Adriana Rojas   +10 more
semanticscholar   +1 more source

Nuclei‐Specific Amygdala Enlargement Is Linked to Psychiatric Comorbidities in Drug‐Resistant Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre, Julia Makhalova, Lisa Soncin, Elodie Garnier, Hugo Dary, Arnaud Le Troter, Roy A. M. Haast, Benoit Testud, Marie Arthuis, Samuel Medina Villalon, Stanislas Lagarde, Francesca Pizzo, Christian Bénar, Jean‐Philippe Ranjeva, Maxime Guye, Fabrice Bartolomei   +15 more
wiley   +1 more source

A behavioral comparison of male and female adults with high functioning autism spectrum conditions [PDF]

, 2011
Autism spectrum conditions (ASC) affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences.
A Ben-Sasson, A Le Couteur, AJ Russell, Amber N. V. Ruigrok, AS Carter, AT Beck, AT Beck, B Auyeung, B Auyeung, B Hofvander, Bhismadev Chakrabarti, C Allison, C Gillberg, C Gillberg, C Lord, C Lord, C Lord, C Lord, C Zahn-Waxler, CJ Newschaffer, D Wechsler, DG Murphy, DH Skuse, DH Skuse, E Fombonne, E Schwarz, EB Foa, ER Ritvo, FR Volkmar, FR Volkmar, G Baird, G Iarocci, GB Mesibov, Greg Pasco, H Asperger, H Markram, H Ring, JA Bastiaansen, James G. Scott, JD McLennan, JG Williams, JK Miller, K Gotham, K Gotham, L Ernsperger, L Kanner, L Mottron, L Ruta, L Tsai, L Wing, L Wing, L Wing, L Wing, LH Willey, LY Tsai, M Holtmann, M Rutter, Meng-Chuan Lai, Michael V. Lombardo, MV Lombardo, MV Lombardo, NR Crick, R Parke, R Simone, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Kopp, S Wheelwright, S Wolff, Sally J. Wheelwright, Simon Baron-Cohen, SL Hartley, Susan A. Sadek, T Attwood, T Attwood, T Pilowsky, V Lotter, W Jones   +83 more
core   +4 more sources

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad, Arnau Puig‐Davi, Iñigo Ruíz‐Barrio, Javier Pagonabarraga, Anna Vázquez‐Oliver, Andrea Horta‐Barba, Jaime Kulisevsky, Saül Martínez‐Horta   +7 more
wiley   +1 more source

The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development

International Journal of Molecular Sciences, 2019
The International Disorders of Sex Development (I-DSD) and International Congenital Adrenal Hyperplasia registry (I-CAH) Registries were originally developed over 10 years ago and have since supported several strands of research and led to approximately ...
S. Ali, A. Lucas-Herald, J. Bryce, S. F. Ahmed   +3 more
semanticscholar   +1 more source

The quantification of gender: Anorexia nervosa and femininity [PDF]

, 2011
The ways in which Anorexia Nervosa (AN) has been described and explained has differed drastically over time although since it was first named in 1874 it has been primarily associated with women and girls it is argued in this paper that it came to be more
Till, C
core   +1 more source