Results 241 to 250 of about 255,701 (284)

Review for "Missense mutations in <i>SLC25A1</i> are associated with congenital myasthenic syndrome type 23"

, 2019
de Estephan Eduardo Paula
openalex   +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

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

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

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

, 2011
Hilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, Gaute Martin Hansen, Dag Malm, Øivind Nilssen   +5 more
openalex   +2 more sources

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +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

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source