Results 121 to 130 of about 1,118 (255)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Unveiling the Rarity: A Case Report of Malignant Melanoma of the Rectum [PDF]

Nikhil Thatipalli, Darshana Tote, Anup Zade, Tushar Dahmiwal, Suhit Naseri   +4 more
openalex   +1 more source

Multiple Genitourinary Malformations Associated with Malformations of Other Organs – As a Rarity of Case Report

, 2021
Fjolla Hyseni, Guri Hyseni, Valon Vokshi, Loran Rakovica, Ali Guy, Breta Kotorri, Ina Kola, Masum Rahman, Anisa Cobo, Juna Musa   +9 more
openalex   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

A methodology for calculating the rarity of diverse proteins based on functional specificity and thermodynamic stability. [PDF]

PLoS One
Miller BJ.
europepmc   +1 more source

Facial talon cusp: A rarity, report of a case with one year follow up and flashback on reported cases

, 2012
VinayaKumar Kulkarni, Pinky Choudhary, ArpanaV Bansal, Jeevanand Deshmukh, MaheshKumar Duddu, ND Shashikiran   +5 more
openalex   +1 more source

Unveiling Rarity: A Case Report on Mucoepidermoid Carcinoma of Lung

JK Science
Primary salivary gland-type tumours of the lung (PSGT) are very rare and constitute less than 1% of all primary lung tumours and commonest subtype of PSGT is pulmonary mucoepidermoid carcinoma (PMEC). We present such a case in 28-year-old male with history of fever, haemoptysis and dyspnoea, he had gross pallor, thin built and his x-ray showed opacity ...
Aneeta Singh, KC Goswami, Shalija Kotwal, Avinash Rajra   +3 more
openaire   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

Novel treatment of gastric outlet obstruction secondary to incarcerated inguinal hernia: percutaneous endoscopic gastrostomy tube. [PDF]

J Surg Case Rep, 2023
Blair SM, Cournoyer RM, Newcomb MR, Owen JW.   +3 more
europepmc   +1 more source

Unveiling Rarity: A Case Report on Clear Cell Carcinoma of Cervix

Mangesh M Londhe, Madhuri Singh, Akshi Raj, Sushama Gurwale, Charusheela Gore   +4 more
openalex   +1 more source