| Title |
N88S mutation in the BSCL2 gene in a Serbian family with distal
hereditary motor neuropathy type V or Silver syndrome
. |
| Author |
Rakocevic-Stojanovic,V., Milic-Rasic,V., Peric,S., Baets,J.,
Timmerman,V., Dierick,I., Pavlovic,S. and De Jonghe,P.
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| Journal |
J. Neurol. Sci. 296 (1-2), 107-109 (2010)
|
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| Title |
Seipin S90L mutation in an Italian family with CMT2/dHMN and
pyramidal signs
. |
| Author |
Luigetti,M., Fabrizi,G.M., Madia,F., Ferrarini,M., Conte,A.,
Delgrande,A., Tonali,P.A. and Sabatelli,M.
|
| Journal |
Muscle Nerve 42 (3), 448-451 (2010)
|
|
| Title |
Two Japanese infants with congenital generalized lipodystrophy due
to BSCL2 mutations
. |
| Author |
Nishiyama,A., Yagi,M., Awano,H., Okizuka,Y., Maeda,T., Yoshida,S.,
Takeshima,Y. and Matsuo,M.
|
| Journal |
Pediatr Int 51 (6), 775-779 (2009)
|
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| Title |
Complementary mutations in seipin gene in a patient with
Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype
variability suggests multiple roles of seipin gene
. |
| Author |
Wu,Y.R., Hung,S.I., Chang,Y.C., Chen,S.T., Lin,Y.L. and Chung,W.H.
|
| Journal |
J. Neurol. Neurosurg. Psychiatr. 80 (10), 1180-1181 (2009)
|
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| Title |
The human lipodystrophy gene product Berardinelli-Seip congenital
lipodystrophy 2/seipin plays a key role in adipocyte
differentiation
. |
| Author |
Chen,W., Yechoor,V.K., Chang,B.H., Li,M.V., March,K.L. and Chan,L.
|
| Journal |
Endocrinology 150 (10), 4552-4561 (2009)
|
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| Title |
Gene and phenotype analysis of congenital generalized lipodystrophy
in Japanese: a novel homozygous nonsense mutation in seipin gene
. |
| Author |
Ebihara,K., Kusakabe,T., Masuzaki,H., Kobayashi,N., Tanaka,T.,
Chusho,H., Miyanaga,F., Miyazawa,T., Hayashi,T., Hosoda,K.,
Ogawa,Y. and Nakao,K.
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J. Clin. Endocrinol. Metab. 89 (5), 2360-2364 (2004)
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| Title |
Heterozygous missense mutations in BSCL2 are associated with distal
hereditary motor neuropathy and Silver syndrome
. |
| Author |
Windpassinger,C., Auer-Grumbach,M., Irobi,J., Patel,H., Petek,E.,
Horl,G., Malli,R., Reed,J.A., Dierick,I., Verpoorten,N.,
Warner,T.T., Proukakis,C., Van den Bergh,P., Verellen,C., Van
Maldergem,L., Merlini,L., De Jonghe,P., Timmerman,V., Crosby,A.H.
and Wagner,K.
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| Journal |
Nat. Genet. 36 (3), 271-276 (2004)
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| Title |
Phenotypic heterogeneity in body fat distribution in patients with
congenital generalized lipodystrophy caused by mutations in the
AGPAT2 or seipin genes
. |
| Author |
Simha,V. and Garg,A.
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J. Clin. Endocrinol. Metab. 88 (11), 5433-5437 (2003)
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| Title |
Identification of the gene altered in Berardinelli-Seip congenital
lipodystrophy on chromosome 11q13
. |
| Author |
Magre,J., Delepine,M., Khallouf,E., Gedde-Dahl,T. Jr., Van
Maldergem,L., Sobel,E., Papp,J., Meier,M., Megarbane,A., Bachy,A.,
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Bourut,C., Czernichow,P., Huet,F., Grigorescu,F., de Kerdanet,M.,
Lacombe,D., Labrune,P., Lanza,M., Loret,H., Matsuda,F., Navarro,J.,
Nivelon-Chevalier,A., Polak,M., Robert,J.J., Tric,P.,
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| Journal |
Nat. Genet. 28 (4), 365-370 (2001)
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| Title |
The Silver syndrome variant of hereditary spastic paraplegia maps
to chromosome 11q12-q14, with evidence for genetic heterogeneity
within this subtype
. |
| Author |
Patel,H., Hart,P.E., Warner,T.T., Houlston,R.S., Patton,M.A.,
Jeffery,S. and Crosby,A.H.
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Am. J. Hum. Genet. 69 (1), 209-215 (2001)
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