Results 151 to 160 of about 1,129,617 (326)

Intra-Abdominal Testicular Seminoma In A Phenotypic Female: A Case of XY, Disorder of Sex Development Complicated with Seminoma

, 2023
Nafisa Abedin, Kazi Nabila Bushrah, Muhit Reza Md Muktadir, Sajjad Hossain, Bishnu Pada Dey   +4 more
openalex   +2 more sources

Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez [PDF]

, 2022
Jorge Mario Molina Díaz, Jorge Mario Molina Díaz, Luis Guillermo Martínez Domínguez, Karla Eugenia Hernández Trejo   +3 more
openalex   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Author response for "<scp>COG6‐CDG</scp> : Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development"

, 2020
Hanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, Efrat Shuster Biton, Marwan Odeh, Limor Kalfon, Shani Ben Harouch, Vered Sheffer Fleischer, Yoav Hoffman, Yael Goldberg, April Dinwiddie, Elena Dumin, Ayelet Eran, Liat Apel‐Sarid, Dov Tiosano, Tzipora C. Falik‐Zaccai   +15 more
openalex   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Current models of care for disorders of sex development – results from an International survey of specialist centres [PDF]

, 2016
Andreas Kyriakou, Arianne B. Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, M Krawczyński, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S. Faisal Ahmed   +10 more
openalex   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Physiology of Male Gonadotropic Axis and Disorders of Sex Development

, 2017
Berenice B. Mendonça, Elaine Maria Frade Costa   +1 more
openalex   +1 more source

Feasibility and Tolerability of Performing Portable MRI for Neurological Disorders in an Outpatient Neurology Clinic: A Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick, Nomin Enkhtsetseg, Joseph Sadok, Matheus Mochetti, Annabel Sorby Adams, Jennifer Guo, Cristina Trapaga Hacker, Isabella Gomez Hjerthen, Seungwon Lee, Siddharth Satish, Andrew S. Ham, Justin Hill, Denis Balaban, Kevin Kyle, Rebecca L. Gillani, Marcelo Matiello, Aleksandar Videnovic, Eric C. Klawiter, W. Taylor Kimberly, Farrah J. Mateen   +19 more
wiley   +1 more source

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

, 2021
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih KILIÇBAY, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar, Yeşim Sıdar Duman   +8 more
openalex   +1 more source