Results 181 to 190 of about 1,027,501 (383)

A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach

The Journal of Pathology: Clinical Research
A whole exome sequencing (WES)‐driven approach to uncover the etiology of unexplained inflammatory gastritides has been underutilized by surgical pathologists. Here, we discovered the pathobiology of an unusual chronic atrophic gastritis in two unrelated
Namrata Setia, Daniela delGaudio, Priscilla Kandikatla, Kelly Arndt, Melissa Tjota, Peng Wang, Jeremy Segal, Mir Alikhan, John Hart   +8 more
doaj   +1 more source

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy [PDF]

, 2002
S. Lefebvre
openalex   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Morphea-like lesions after botulinum toxin A injections

JAAD Case Reports, 2020
Marina Landau, MD, Ekaterina Emelyanova, MD, Ranella Hirsch, MD   +2 more
doaj   +1 more source

Successful treatment of corticosteroid-induced cutaneous atrophy and dyspigmentation with intralesional saline in the setting of keloids

JAAD Case Reports, 2021
Harpinder Dhinsa, BS, Ashley E. McGuinness, MD, Nkanyezi N. Ferguson, MD   +2 more
doaj   +1 more source

Flexor carpi radialis muscle atrophy due to cervical spondylotic amyotrophy

Clinical Case Reports
Key Clinical Message Presenting a rare case of flexor carpi radialis atrophy secondary to cervical spondylotic amyotrophy. Abstract A 52‐year‐old man with a history of cervicobrachial neuralgia presented with an advanced atrophy of the right flexor carpi
Fatma Elleuch, Wafa Elleuch, Sameh Ghroubi, Mohamed Habib Elleuch   +3 more
doaj   +1 more source

Heterogeneity of factors associated with cognitive decline and cortical atrophy in early- versus late-onset Alzheimer’s disease [PDF]

Jaelim Cho, Cindy W. Yoon, Jeong-Hyeon Shin, Ha‐Eun Seo, Woo‐Ram Kim, Han Kyu Na, Justin Byun, Samuel N. Lockhart, Changsoo Kim, Joon‐Kyung Seong, Young Noh   +10 more
openalex   +1 more source

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls [PDF]

, 2015
Ping Fang, Liang Li, Jian Zeng, Wanjun Zhou, Weiqing Wu, Zeyan Zhong, Tizhen Yan, Jiansheng Xie, Jing Huang, Lin Li, Ying Zhao, Xiangmin Xu   +11 more
openalex   +1 more source

Olivopontocerebellar Atrophy

Yonsei Medical Journal, 1988
I S, Choi, M S, Lee, W T, Kim, K K, Choi
openaire   +2 more sources

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source