137 related articles for article (PubMed ID: 25454168)
1. Clinical and electrophysiological features in a French family presenting with seipinopathy.
Ollivier Y; Magot A; Latour P; Perrier J; Mercier S; Maisonobe T; Péréon Y
Neuromuscul Disord; 2015 Feb; 25(2):161-4. PubMed ID: 25454168
[TBL] [Abstract][Full Text] [Related]
2. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M; Schlotter-Weigel B; Lochmüller H; Strobl-Wildemann G; Auer-Grumbach P; Fischer R; Offenbacher H; Zwick EB; Robl T; Hartl G; Hartung HP; Wagner K; Windpassinger C;
Ann Neurol; 2005 Mar; 57(3):415-24. PubMed ID: 15732094
[TBL] [Abstract][Full Text] [Related]
3. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
Chen B; Zheng R; Luan X; Zhang W; Wang Z; Yuan Y
Neuropathology; 2009 Oct; 29(5):543-7. PubMed ID: 19323790
[TBL] [Abstract][Full Text] [Related]
4. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
Rakocević-Stojanović V; Milić-Rasić V; Perić S; Baets J; Timmerman V; Dierick I; Pavlović S; De Jonghe P
J Neurol Sci; 2010 Sep; 296(1-2):107-9. PubMed ID: 20598714
[TBL] [Abstract][Full Text] [Related]
5. The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.
Minami K; Takahashi S; Nihei Y; Oki K; Suzuki S; Ito D; Takashima H; Suzuki N
Intern Med; 2018 Feb; 57(4):613-615. PubMed ID: 29269637
[TBL] [Abstract][Full Text] [Related]
6. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Delgrande A; Tonali PA; Sabatelli M
Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
[TBL] [Abstract][Full Text] [Related]
7. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
Ito D; Suzuki N
Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
[TBL] [Abstract][Full Text] [Related]
8. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Irobi J; Van den Bergh P; Merlini L; Verellen C; Van Maldergem L; Dierick I; Verpoorten N; Jordanova A; Windpassinger C; De Vriendt E; Van Gerwen V; Auer-Grumbach M; Wagner K; Timmerman V; De Jonghe P
Brain; 2004 Sep; 127(Pt 9):2124-30. PubMed ID: 15242882
[TBL] [Abstract][Full Text] [Related]
9. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].
Ito D; Suzuki N
Rinsho Shinkeigaku; 2007 Jun; 47(6):329-35. PubMed ID: 17633104
[TBL] [Abstract][Full Text] [Related]
10. Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
Cho HJ; Sung DH; Ki CS
Muscle Nerve; 2007 Sep; 36(3):384-6. PubMed ID: 17486577
[TBL] [Abstract][Full Text] [Related]
11. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
[TBL] [Abstract][Full Text] [Related]
12. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C; Auer-Grumbach M; Irobi J; Patel H; Petek E; Hörl G; Malli R; Reed JA; Dierick I; Verpoorten N; Warner TT; Proukakis C; Van den Bergh P; Verellen C; Van Maldergem L; Merlini L; De Jonghe P; Timmerman V; Crosby AH; Wagner K
Nat Genet; 2004 Mar; 36(3):271-6. PubMed ID: 14981520
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
Pennisi M; Raggi A; Barone R; Muglia M; Citrigno L; Cantone M; Lanza G; Pennisi G; Ferri R; Bella R
Acta Neurol Belg; 2012 Mar; 112(1):57-64. PubMed ID: 22427291
[TBL] [Abstract][Full Text] [Related]
14. A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Brusse E; Majoor-Krakauer D; de Graaf BM; Visser GH; Swagemakers S; Boon AJ; Oostra BA; Bertoli-Avella AM
Neurogenetics; 2009 Oct; 10(4):289-97. PubMed ID: 19396477
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Miranda DM; Wajchenberg BL; Calsolari MR; Aguiar MJ; Silva JM; Ribeiro MG; Fonseca C; Amaral D; Boson WL; Resende BA; De Marco L
Clin Endocrinol (Oxf); 2009 Oct; 71(4):512-7. PubMed ID: 19226263
[TBL] [Abstract][Full Text] [Related]
16. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
Friguls B; Coroleu W; del Alcazar R; Hilbert P; Van Maldergem L; Pintos-Morell G
Eur J Med Genet; 2009; 52(1):14-6. PubMed ID: 19041432
[TBL] [Abstract][Full Text] [Related]
17. Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
Ishihara S; Okamoto Y; Tanabe H; Yoshimura A; Higuchi Y; Yuan JH; Hashiguchi A; Ishiura H; Mitsui J; Suwazono S; Oya Y; Sasaki M; Nakagawa M; Tsuji S; Ohya Y; Takashima H
J Peripher Nerv Syst; 2020 Jun; 25(2):125-131. PubMed ID: 32108980
[TBL] [Abstract][Full Text] [Related]
18. N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.
Yagi T; Ito D; Nihei Y; Ishihara T; Suzuki N
Hum Mol Genet; 2011 Oct; 20(19):3831-40. PubMed ID: 21750110
[TBL] [Abstract][Full Text] [Related]
19. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
Jin J; Cao L; Zhao Z; Shen S; Kiess W; Zhi D; Ye R; Cheng R; Chen L; Yang Y; Luo F
Eur J Endocrinol; 2007 Dec; 157(6):783-7. PubMed ID: 18057387
[TBL] [Abstract][Full Text] [Related]
20. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F
Seizure; 2016 Nov; 42():1-6. PubMed ID: 27632409
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]