Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome

(2014) D.A. Dyment et al.   European Journal of Medical Genetics

Caveolae as plasma membrane sensors, protectors and organizers

(2013) Robert G. Parton et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Seipin: from human disease to molecular mechanism

(2012) Bethany R. Cartwright et al.   JOURNAL OF LIPID RESEARCH

Chicago classification criteria of esophageal motility disorders defined in high resolution esophageal pressure topography1

(2012) A. J. Bredenoord et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM