Results 261 to 270 of about 714,661 (305)

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report. [PDF]

Front Med (Lausanne)
Zhang J, Guo M, Yuan D, Wei J, Cui H.
europepmc   +1 more source

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]

J Med Life
Capisizu A, Sandu C, Caragea RM, Capisizu AS.   +3 more
europepmc   +1 more source

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado, Koustubh Bavdhankar, Divyani Garg, Francesca Magrinelli, Huw R. Morris, Kailash P. Bhatia   +5 more
wiley   +1 more source

Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in <i>NLRP3</i> in a previously healthy middle-aged woman. [PDF]

Front Immunol
Cho SI, Kim S, Kim JY, Kim JW, Pyeon S, Lee WW, Park JK.   +6 more
europepmc   +1 more source

<i>PROS1</i> (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report. [PDF]

Front Cardiovasc Med
Huang J, Zhang Y, Yu H, Liu W.
europepmc   +1 more source

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
europepmc   +1 more source

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. [PDF]

J Multidiscip Healthc
Dong J, Zhang W, Chen Q, Zha L.
europepmc   +1 more source

<i>De novo</i> missense mutation in <i>MYT1l</i> leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Wang X, Lin S, Chen Y, Qi Y, Sun X, Wang W, Jiang K.   +6 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Neuropsychiatric‐Led Presentation of Late‐Onset Parkin‐Related Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Sarah Fullam, Shane Lyons, Martha Finnegan, Richard Walsh, Sean O'Dowd   +4 more
wiley   +1 more source