Results 171 to 180 of about 207,733 (353)
Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach [PDF]
, 1999 Michel De Vos +6 more
openalex +1 more source
Real‐World Comparison of High‐Efficacy Versus Non‐High‐Efficacy Therapies in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The choice of the first disease modifying treatment (DMT) in multiple sclerosis (MS) is a topic of great interest, and whether high‐efficacy DMTs should be the first choice remains debated. We compared treatment outcomes (no evidence of disease activity [NEDA] and its components) between treatment‐naïve relapsing–remitting MS (RRMS ...
Sarmad Al‐Araji +9 more
wiley +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont +4 more
wiley +1 more source
Evaluation of the Needs of Male Carriers of Mutations in BRCA1 or BRCA2 Who Have Undergone Genetic Counseling [PDF]
, 2000 Alexander Liede +7 more
openalex +1 more source
Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck +15 more
wiley +1 more source
Genetic counseling for mitochondrial disorders [PDF]
, 2000 M.A. Del Vecchio, G.L. Matika, C.A. Bay
openalex +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source