Results 251 to 260 of about 1,540,335 (330)

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Journal of musculoskeletal & neuronal interactions, 2007
S. Ichikawa, E. Imel, M. Kreiter, X. Yu, D. Mackenzie, A. H. Sorenson, R. Goetz, M. Mohammadi, K. White, M. Econs   +9 more
semanticscholar   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Non-small cell lung carcinoma with co-expression of thyroid transcription factor-1 and p40: a case report and literature review. [PDF]

World J Surg Oncol
Wei C, Wang Y, Lu W, Lin BY, Gan D, Lu Y.   +5 more
europepmc   +1 more source

Respiratory Syncytial Virus (RSV): A Comprehensive Overview From Basic Biology to Clinical Prevention and Control

Medicinal Research Reviews, EarlyView.
ABSTRACT Respiratory syncytial virus (RSV) is a common virus that causes respiratory infections, posing a serious threat, particularly to infants, the elderly, and individuals with compromised immune systems. As the leading cause of lower respiratory tract infections (LRTIs) in infants, RSV is responsible for millions of cases worldwide each year.
Jie Shi, Xiya Huang, Chunjun Ye, Yishan Lu, Yanyan Liu, Yuquan Wei, Xiawei Wei   +6 more
wiley   +1 more source

Mitapivat therapy in a patient with nonsense homozygous mutation of the Pyruvate Kinase L/R gene: a case report. [PDF]

Blood Transfus
Ceglie S, Valentini CG, Pellegrino C, Massini G, Teofili L.   +4 more
europepmc   +1 more source

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Human Molecular Genetics, 2005
A. Benet-Pagès, P. Orlik, T. Strom, B. Lorenz-Depiereux   +3 more
semanticscholar   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours. [PDF]

Clin Transl Med
Grisham RN, Hopp E, Pennington K, Holloway R, Wenham RM, Blecharz P, Dockery L, Matsuo K, Salani R, Bidzinski M, Braly P, Celano P, Reid T, Seward S, Lewis J, Johnson M, DuBose R, Ahn S, Cheng S, Alvero C, Konstantinopoulos PA.   +20 more
europepmc   +1 more source

Efficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis

Muscle &Nerve, EarlyView.
Pretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Viktor Chanchykov, Sharon Iype, Marbella Quinonez, Fenfen Wu, Stephen Cannon   +4 more
wiley   +1 more source

Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population. [PDF]

Int J Biol Sci
Hennighausen L, Cho G, Lee SG, Caf Y, Kim J, Knabl L, Furth PA, Lee HK.   +7 more
europepmc   +1 more source