Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Jussi Pekka TolonenRicardo P SchnekenbergSimon McGowanDavid SimsMeriel McEntagartFrances ElmslieDebbie ShearsHelen StewartGeorge K TofarisTabib DabirPatrick J MorrisonDiana JohnsonMarios HadjivassiliouSian EllardCharles Shaw-SmithAnna ZnaczkoAbhijit DixitMohnish SuriAjoy SarkarRachel E HarrisonGabriela JonesHenry HouldenGiorgia CeravoloJoanna JarvisJonathan WilliamsMorag E ShanksPenny CloustonJulia RankinLubov BlumkinTally Lerman-SagiePenina PongerSalmo RaskinKatariina GranathJohanna UusimaaHector ContiEmma McCannShelagh JossAlexander J M BlakesKay MetcalfeHelen KingstonMarta BertoliRachel KneenSally Ann LynchInmaculada Martínez AlbaladejoAusten Peter MooreWendy D Jonesnull nullEsther B E BeckerAndrea H NémethPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
This dataset represents the largest cohort of patients with ITPR1 missense variants, expanding the clinical spectrum of SCA29 and GLSP. Standardized transcript annotation is essential for future reporting. Our findings will aid in diagnostic interpretation in the clinic and guide selection of variants for preclinical studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.