Results 231 to 240 of about 714,611 (262)

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

Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC. [PDF]

Hum Mutat
Bursch KL, Jorge SD, Catlin AE, Nuñez R, LeClaire MD, Licklider J, Urrutia RA, Smith BC.   +7 more
europepmc   +1 more source

A Chinese X-Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation-A Case Report and Literature Review. [PDF]

Clin Case Rep
Zhang FQ, Zhang Z, Wang D, Yang Y, Li X.
europepmc   +1 more source

Spectrum of actionable genetic variants in acute myeloid leukaemia patients from Pakistan: a study based on next-generation sequencing. [PDF]

Ecancermedicalscience
Khurram S, Basit AA, Qureshi MA.
europepmc   +1 more source

Clinical phenotype spectrum and prognostic analysis of <i>DNM1L-</i>related disorders: a single-center cohort study of 18 patients. [PDF]

Front Neurol
Xu H, Xu C, Zou Y, Duan X, Song M, Han X, Song T, Liu Y, Fang F.   +8 more
europepmc   +1 more source

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics. [PDF]

Hum Mutat
Aktaş E, Nizamoğlu C, Ventura S.
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