Mutation cadre lecture < Mutation faux sens < Mutation non sens

Facettes :

List of bibliographic references indexed by Mutation faux sens

Number of relevant bibliographic references: 5.

Ident.	Authors (with country if any)	Title
001E00 (2010)	Kyoko Kanazawa [Japon] ; Satoko Kumada [Japon] ; Mitsuhiro Kato [Japon] ; Hirotomo Saitsu [Japon] ; Eiji Kurihara [Japon] ; Naomichi Matsumoto [Japon]	Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene
001E64 (2010)	Jay A. Van Gerpen [États-Unis] ; Mark S. Ledoux [États-Unis] ; Zbigniew K. Wszolek [États-Unis]	Adult‐onset leg dystonia due to a missense mutation in THAP1
003308 (2006)	Satoshi Kaneko [Japon] ; Toshitaka Kawarai [Canada] ; Edwin Yip [Canada] ; Shabnam Salehi-Rad [Canada] ; Christine Sato [Canada] ; Antonio Orlacchio [Italie] ; Giorgio Bernardi [Italie] ; Yan Liang [Canada] ; Hiroshi Hasegawa [Canada] ; Ekaterina Rogaeva [Canada] ; Peter St George-Hyslop [Canada]	Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
003531 (2006)	Renato P. Munhoz [Brésil] ; Toshitaka Kawarai [Canada] ; Helio A. Teive [Brésil] ; Salmo Raskin [Brésil] ; Christine Sato [Canada] ; Yan Liang [Canada] ; Peter H. St. George-Hyslop [Canada] ; Ekaterina Rogaeva [Canada]	Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)
004B12 (2000)	Maria Teresa Dotti [Italie] ; Antonio Federico [Italie] ; Rita Garuti [Italie] ; Sebastiano Calandra [Italie]	Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

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