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American Journal of Human Genetics

Volumn 83, Issue 1, 2008, Pages 128-130

Response to Martignoni et al.

(1) Mannan, Ashraf U a

a UNIVERSITY OF GÖTTINGEN (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SPASTIN; ZFYVE 27;

GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; HELA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOPRECIPITATION; LETTER; NEURITE; NONHUMAN; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECURRENCE RISK;

EID: 46249121106 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1016/j.ajhg.2008.05.018 Document Type: Letter

Times cited : (2)

References (6)

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- ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
- Mannan A.U., Krawen P., Sauter S.M., Boehm J., Chronowska A., Paulus W., Neesen J., and Engel W. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79 (2006) 351-357
- (2006) Am. J. Hum. Genet. , vol.79 , pp. 351-357
- Mannan, A.U.¹ Krawen, P.² Sauter, S.M.³ Boehm, J.⁴ Chronowska, A.⁵ Paulus, W.⁶ Neesen, J.⁷ Engel, W.⁸

2
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- Protrudin induces neurite formation by directional membrane trafficking
- Shirane M., and Nakayama K.I. Protrudin induces neurite formation by directional membrane trafficking. Science 314 (2006) 818-821
- (2006) Science , vol.314 , pp. 818-821
- Shirane, M.¹ Nakayama, K.I.²

3
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- M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
- Pollak A., Skórka A., Mueller-Malesińska M., Kostrzewa G., Kisiel B., Waligóra J., Krajewski P., Ołdak M., Korniszewski L., Skarzyński H., and Ploski R. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am. J. Med. Genet. A. 14 (2007) 2534-2543
- (2007) Am. J. Med. Genet. A. , vol.14 , pp. 2534-2543
- Pollak, A.¹ Skórka, A.² Mueller-Malesińska, M.³ Kostrzewa, G.⁴ Kisiel, B.⁵ Waligóra, J.⁶ Krajewski, P.⁷ Ołdak, M.⁸ Korniszewski, L.⁹ Skarzyński, H.¹⁰ Ploski, R.¹¹

4
- 33747880802
- Pathogenetic role of the deafness-related M34T mutation of Cx26
- Bicego M., Beltramello M., Melchionda S., Carella M., Piazza V., Zelante L., Bukauskas F.F., Arslan E., Cama E., Pantano S., et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum. Mol. Genet. 15 (2006) 2569-2587
- (2006) Hum. Mol. Genet. , vol.15 , pp. 2569-2587
- Bicego, M.¹ Beltramello, M.² Melchionda, S.³ Carella, M.⁴ Piazza, V.⁵ Zelante, L.⁶ Bukauskas, F.F.⁷ Arslan, E.⁸ Cama, E.⁹ Pantano, S.¹⁰

5
- 44949204601
- The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches
- Yu W., Qiang L., Solowska J.M., Karabay A., Korulu S., and Baas P.W. The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches. Mol. Biol. Cell 19 (2008) 1485-1498
- (2008) Mol. Biol. Cell , vol.19 , pp. 1485-1498
- Yu, W.¹ Qiang, L.² Solowska, J.M.³ Karabay, A.⁴ Korulu, S.⁵ Baas, P.W.⁶

6
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- Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
- Hanein S., Martin E., Boukhris A., Byrne P., Goizet C., Hamri A., Benomar A., Lossos A., Denora P., Fernandez J., et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am. J. Hum. Genet. 82 (2008) 992-1002
- (2008) Am. J. Hum. Genet. , vol.82 , pp. 992-1002
- Hanein, S.¹ Martin, E.² Boukhris, A.³ Byrne, P.⁴ Goizet, C.⁵ Hamri, A.⁶ Benomar, A.⁷ Lossos, A.⁸ Denora, P.⁹ Fernandez, J.¹⁰

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.