Decisions taken in the design of clinical trials regarding the assessed endpoints and eligibility criteria will directly impact the understanding of the value of a product later; especially because value assessments tend to focus on selected subsets of clinical outcomes because these were the endpoints studied in trials [ 8, 9, 10]. Today, patient-reported outcomes are often generic and missing patient relevance for a specific disease environment. Thus, early involvement of patients will ensure that patient-relevant measures are selected as endpoints. This is especially important because endpoints, but also inclusion criteria, eventually influence decisions regarding cost coverage [ 11] and may lead to subpopulations being excluded from access to treatment. Mejat is highly independent and self-sufficient, with a strong sense of self that commands respect. Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes encoding for nuclear envelope components. These proteins can be part of the inner nuclear membrane (INM), such as emerin or SUN proteins, outer nuclear membrane (ONM), such as Nesprins, or the nuclear lamina, such as lamins A and C. However, they physically interact with each other to insure the nuclear envelope integrity and mediate the interactions of the nuclear envelope with both the genome, on the inner side, and the cytoskeleton, on the outer side. The core of this complex, called LINC (LInker of Nucleoskeleton to Cytoskeleton) is composed of KASH and SUN homology domain proteins. SUN proteins are INM proteins which interact with lamins by their N-terminal domain and with the KASH domain of nesprins located in the ONM by their C-terminal domain.Although most of these proteins are ubiquitously expressed, their mutations have been associated with a large number of clinically unrelated pathologies affecting specific tissues. Moreover, variants in SUN proteins have been found to modulate the severity of diseases induced by mutations in other LINC components or interactors. For these reasons, the diagnosis and the identification of the molecular explanation of "nuclear envelopathies" is currently challenging.The aim of this review is to summarize the human diseases caused by mutations in genes coding for INM proteins, nuclear lamina, and ONM proteins, and to discuss their potential physiopathological mechanisms that could explain the large spectrum of observed symptoms.

Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000;23(10):1456–1471. doi: 10.1002/1097-4598(200010)23:10<1456::AID-MUS2> 3.0.CO;2-T. PhD in molecular and cellular biology by training, Alexandre has been working on neuromuscular junction defects and Emery Dreifuss muscular dystrophy in France and USA. He led a research group in Lyon during 8 years before becoming Scientific International Affairs manager for AFM Telethon. Mejat's attention is directed towards helping and caring for those they love. They are exceedingly domestic and love their home and family, working hard to make both comfortable and secure.

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Paracha N, Hudson P, Mitchell S, Sutherland CS. Systematic literature review to assess economic evaluations in spinal muscular atrophy (SMA). Pharmacoeconomics. 2021. https://doi.org/10.1007/s40273-021-01095-6. Life Lesson & Challenge: As the first vowel of their name is 'E', people named Mejat are given the life lesson of experiencing a better reaction to personal stress, whilst the life challenge is linked to refraining from the pursuit of an unrealistic social image.

In Numerology, the first letter of a name is referred to as Cornerstone and affects a person's approach to decision making and their response to chances to do things differently. The letter M at the start of a name suggests a personality that is a bit of a compulsive worker combined with a domestic figure who takes their time but who is also capable of discerning when it is time to take it slower. University Lyon, Université Claude Bernard Lyon 1, Institut NeuroMyoGène, F-69622, Villeurbanne, France. [email protected] Daly, who had been EURORDIS Vice-President and Acting President since June 2022, became the new President of EURORDIS, as Terkel Andersen stepped down to take on the position of Immediate Past President within our Board of Directors. Mejat's love for family and friends is a major source of their happiness and sometimes unhappiness. Their desire to help others is so strong that they often find themselves sacrificing their own personal needs for someone else's.