Amino Acid Substitution < Amino Acid Substitution (genetics) < Amino Acid Transport Systems, Neutral

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List of bibliographic references indexed by Amino Acid Substitution (genetics)

Number of relevant bibliographic references: 10.

Ident.	Authors (with country if any)	Title
001E81 (2010)	Tobias Warnecke [Allemagne] ; Thomas Duning [Allemagne] ; Anja Schirmacher [Allemagne] ; Siawoosh Mohammadi [Allemagne] ; Wolfram Schwindt [Allemagne] ; Hubertus Lohmann [Allemagne] ; Rainer Dziewas [Allemagne] ; Michael Deppe [Allemagne] ; E. Bernd Ringelstein [Allemagne] ; Peter Young [Allemagne]	A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects
002700 (2008)	Eng-King Tan [Singapour] ; Hui-Qin Lim [Singapour] ; Yih Yuen [Singapour] ; Yi Zhao [Singapour]	Pathogenicity of LRRK2 P755L variant in Parkinson's disease
002C33 (2007)	William C. Nichols [États-Unis] ; Diane K. Marek [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Nathan Pankratz [États-Unis] ; Cheryl A. Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; Joanne Wojcieszek [États-Unis] ; Tatiana Foroud [États-Unis]	R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
002D17 (2007)	Yuhei Takado [Japon] ; Kenju Hara [Japon] ; Takayoshi Shimohata [Japon] ; Susumu Tokiguchi [Japon] ; Osamu Onodera [Japon] ; Masatoyo Nishizawa [Japon]	New mutation in the non‐gigantic exon of SACS in Japanese siblings
003144 (2006)	David A. Grimes [Canada] ; Fabin Han [Canada] ; Michel Panisset [Canada] ; Lemuel Racacho [Canada] ; Fengxia Xiao [Canada] ; Ruobing Zou [Canada] ; Kelly Westaff [Canada] ; Dennis E. Bulman [Canada]	Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
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
003309 (2006)	Monique H. M. Vlak [Pays-Bas] ; Richard J. Sinke [Pays-Bas] ; Gwenda M. Rabelink [Pays-Bas] ; Berry P. H. Kremer [Pays-Bas] ; Bart P. C. Van De Warrenburg [Pays-Bas]	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
003393 (2006)	Keiko Hiramoto [Japon] ; Hideshi Kawakami [Japon] ; Kimiko Inoue [Japon] ; Takahiro Seki [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masayasu Matsumoto [Japon] ; Kaoru Kurisu [Japon] ; Norio Sakai [Japon]	Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
003424 (2006)	Paola Valentino [Italie] ; Grazia Annesi [Italie] ; Innocenza C. Cir Candiano [Italie] ; Ferdinanda Annesi [Italie] ; Donatella Civitelli [Italie] ; Patrizia Tarantino [Italie] ; Francesco Naso [Italie] ; Patrizia Spadafora [Italie] ; Sara Carrideo [Italie] ; Elvira V. De Marco [Italie] ; Domenico Consoli [Italie] ; Mario Zappia [Italie] ; Antonio Gambardella [Italie] ; Aldo Quattrone [Italie]	Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern
004448 (2002)	Andrea Carmine [Suède] ; Silvia Buervenich [Suède] ; Olof Sydow [Suède] ; Maria Anvret [Suède] ; Lars Olson [Suède]	Further evidence for an association of the Paraoxonase 1 (PON1) Met‐54 allele with Parkinson's disease

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