Results 161 to 170 of about 784,442 (245)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Comparison of the superimposition accuracy in the integration of different digital dental models into the cone-beam computed tomography: An ex vivo study. [PDF]

Med Oral Patol Oral Cir Bucal
Marlière DA, Calori MJ, Asprino L.
europepmc   +1 more source

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji, Jianlong Zhang, Yiming Shi, Shiyu Shan, Yang Du, Guangshuo Li, Ying Jin, Yani Zhang, Chuanying Wang, Yijun Lin, Yuhao Guo, Decai Tian, Xingquan Zhao, Tian Song   +13 more
wiley   +1 more source

Margins of Planning Target Volume and Set-up Errors based on Megavoltage Cone-Beam CT Image Guided Radiotherapy with Helical Tomotherapy: Importance of Automatic Registration Plus Manual Registration. [PDF]

J Biomed Phys Eng
Seifi Makrani D, Banaee N, Geraily G, Nedaie HA, Khorrami Moghaddam A, Jassim HH.   +5 more
europepmc   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Improving Registration and Dataflows Between Pediatric Oncology Clinics and the Childhood Cancer Registry of Switzerland: Protocol for SwissPedCancer Quality Assurance Study.

JMIR Res Protoc
Shoman Y, Leuenberger L, Sommer G, Bielicki JA, Brazzola P, Della Valle S, Diezi M, Drozdov D, Gumy-Pause F, Guerreiro Stücklin A, Kuehnel UM, Scheinemann K, Schindera C, Schilling F, Waespe N, Spycher BD, Schlapbach LJ, Kuehni CE, Belle FN, SwissPedHealth Consortium.   +19 more
europepmc   +1 more source

Comparison of 2D and 3D carotid plaque analysis and longitudinal <i>in vivo</i> ultrasound registration using 3D histology. [PDF]

J Med Imaging (Bellingham)
Lee Y, Kiernan MJ, Mitchell CC, Salamat S, Wilbrand SM, Dempsey RJ, Varghese T.   +6 more
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source