Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Author:

Schottlaender Lucia V.,Abeti Rosella,Jaunmuktane Zane,Macmillan Carol,Chelban Viorica,O’Callaghan Benjamin,McKinley John,Maroofian Reza,Efthymiou Stephanie,Athanasiou-Fragkouli Alkyoni,Forbes Raeburn,Soutar Marc P.M.,Livingston John H.,Kalmar Bernardett,Swayne Orlando,Hotton Gary,Pittman Alan,Mendes de Oliveira João Ricardo,de Grandis Maria,Richard-Loendt Angela,Launchbury Francesca,Althonayan Juri,McDonnell Gavin,Carr Aisling,Khan Suliman,Beetz Christian,Bisgin Atil,Tug Bozdogan Sevcan,Begtrup Amber,Torti Erin,Greensmith Linda,Giunti Paola,Morrison Patrick J.,Brandner Sebastian,Aurrand-Lions Michel,Houlden Henry,Groppa Stanislav,Karashova Blagovesta Marinova,Nachbauer Wolfgang,Boesch Sylvia,Arning Larissa,Timmann Dagmar,Cormand Bru,Pérez-Dueñas Belen,Di Rosa Gabriella,Goraya Jatinder S.,Sultan Tipu,Mine Jun,Avdjieva Daniela,Kathom Hadil,Tincheva Radka,Banu Selina,Pineda-Marfa Mercedes,Veggiotti Pierangelo,Ferrari Michel D.,Verrotti Alberto,Marseglia Giangluigi,Savasta Salvatore,García-Silva Mayte,Ruiz Alfons Macaya,Garavaglia Barbara,Borgione Eugenia,Portaro Simona,Sanchez Benigno Monteagudo,Boles Richard,Papacostas Savvas,Vikelis Michail,Papanicolaou Eleni Zamba,Dardiotis Efthymios,Maqbool Shazia,Ibrahim Shahnaz,Kirmani Salman,Rana Nuzhat Noureen,Atawneh Osama,Koutsis George,Breza Marianthi,Mangano Salvatore,Scuderi Carmela,Borgione Eugenia,Morello Giovanna,Stojkovic Tanya,Zollo Massimi,Heimer Gali,Dauvilliers Yves A.,Striano Pasquale,Al-Khawaja Issam,Al-Mutairi Fuad,Sherifa Hamed

Funder

The Medical Research Council

The Wellcome Trust

The Rosetree Trust

Ataxia UK

The MSA Trust

Brain Research UK

Sparks GOSH Charity

Muscular Dystrophy UK

Muscular Dystrophy Association

National Institute of Health Research (NIHR) UCLH/UCL Biomedical Research Centre and Dementia Biomedical Research Unit

CNP

CAPES

DECIT-MS

National Institute for Health Research

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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