| 1 |
Towards a mechanistic understanding of lipodystrophy and seipin functions.
25
61
|
Wee K...Han W
|
25195639 |
2014 |
| 2 |
Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
25
61
|
Debray FG...Verellen-Dumouin C
|
23647707 |
2013 |
| 3 |
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
61
25
|
Friguls B...Pintos-Morell G
|
19041432 |
2009 |
| 4 |
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
25
61
|
Simha V...Garg A
|
18698612 |
2008 |
| 5 |
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.
61
25
|
Payne VA...Rochford JJ
|
18458148 |
2008 |
| 6 |
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
25
61
|
Kim CA...Magre J
|
18211975 |
2008 |
| 7 |
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
25
61
|
Fu M...Shuldiner AR
|
15181077 |
2004 |
| 8 |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
25
61
|
Windpassinger C...Wagner K
|
14981520 |
2004 |
| 9 |
Genetic basis of congenital generalized lipodystrophy.
61
25
|
Agarwal AK...Garg A
|
14557833 |
2004 |
| 10 |
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
61
25
|
Agarwal AK...Garg A
|
14557463 |
2003 |
| 11 |
Prevalence of mutations in AGPAT2 among human lipodystrophies.
61
25
|
Magre J...Lathrop M
|
12765973 |
2003 |
| 12 |
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
25
61
|
Van Maldergem L...O'Rahilly S
|
12362029 |
2002 |
| 13 |
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
61
25
|
Magre J...BSCL Working Group
|
11479539 |
2001 |
| 14 |
Leptin in congenital and HIV-associated lipodystrophy.
25
|
Tsoukas MA...Mantzoros CS
|
25267014 |
2015 |
| 15 |
A new seipin-associated neurodegenerative syndrome.
25
|
Guillen-Navarro E...Araujo-Vilar D
|
23564749 |
2013 |
| 16 |
Seipin regulates excitatory synaptic transmission in cortical neurons.
25
|
Wei S...Han W
|
23173741 |
2013 |
| 17 |
Seipin: from human disease to molecular mechanism.
25
|
Cartwright BR...Goodman JM
|
22474068 |
2012 |
| 18 |
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction.
25
|
Jeninga EH...Kalkhoven E
|
23430896 |
2012 |
| 19 |
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
25
|
Garg A
|
21865368 |
2011 |
| 20 |
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
25
|
Graul-Neumann LM...Passarge E
|
20979188 |
2010 |
| 21 |
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
25
|
Shastry S...Garg A
|
20684003 |
2010 |
| 22 |
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
25
|
Rajab A...Schuelke M
|
20300641 |
2010 |
| 23 |
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
25
|
Miranda DM...De Marco L
|
19226263 |
2009 |
| 24 |
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
25
|
Hayashi YK...Nishino I
|
19726876 |
2009 |
| 25 |
Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
25
|
Ito D...Suzuki N
|
18790819 |
2009 |
| 26 |
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.
25
|
Beltrand J...Levy-Marchal C
|
17671040 |
2007 |
| 27 |
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy.
25
|
Ebihara K...Nakao K
|
17118991 |
2007 |
| 28 |
Genetic disorders of adipose tissue development, differentiation, and death.
25
|
Agarwal AK...Garg A
|
16722806 |
2006 |
| 29 |
Common autosomal recessive diseases in Oman derived from a hospital-based registry.
25
|
Rajab A...Mohammed AJ
|
15767751 |
2005 |
| 30 |
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
25
|
Ebihara K...Nakao K
|
15126564 |
2004 |
| 31 |
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature.
25
|
Misra A...Garg A
|
12640189 |
2003 |
| 32 |
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
25
|
Agarwal AK...Garg A
|
11967537 |
2002 |
| 33 |
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
25
|
Garg A...Bowcock AM
|
10487716 |
1999 |
| 34 |
Protein Arginine Methyltransferase PRMT5 Regulates Fatty Acid Metabolism and Lipid Droplet Biogenesis in White Adipose Tissues.
61
|
Jia Z...Kuang S
|
33304767 |
2020 |
| 35 |
SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis.
61
|
Jin Y...Ren Z
|
33147895 |
2020 |
| 36 |
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
61
|
Ishihara S...Takashima H
|
32108980 |
2020 |
| 37 |
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
61
|
Xie B...Shen Y
|
32236581 |
2020 |
| 38 |
Berardinelli-Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing.
61
|
Zhou H...Chen W
|
32246911 |
2020 |
| 39 |
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
61
|
Ren M...Shi T
|
32349771 |
2020 |
| 40 |
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.
61
|
Gao M...Yang H
|
31873720 |
2020 |
| 41 |
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report.
61
|
Guerreiro V...Freitas P
|
32079542 |
2020 |
| 42 |
Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression.
61
|
Xiong J...Chen L
|
31776610 |
2020 |
| 43 |
A Child with Lipemic Sample: Berardinelli-Seip Congenital Lipodystrophy.
61
|
-Ain QU...Shahzad N
|
32036838 |
2020 |
| 44 |
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.
61
|
Joshi R...Sharma S
|
31724546 |
2019 |
| 45 |
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
61
|
Craveiro Sarmento AS...de Melo Campos JTA
|
31416577 |
2019 |
| 46 |
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
61
|
Zhou H...Chen W
|
31185001 |
2019 |
| 47 |
Promethin Is a Conserved Seipin Partner Protein.
61
|
Castro IG...Bohnert M
|
30901948 |
2019 |
| 48 |
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
61
|
Vatier C...Bismuth E
|
30296183 |
2019 |
| 49 |
Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice.
61
|
Xu W...Chen W
|
30521848 |
2019 |
| 50 |
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
61
|
Dantas de Medeiros JL...Araujo de Melo Campos JT
|
30208912 |
2018 |
