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Montecchiani Celeste
Montecchiani Celeste
Hereditary spastic paraplegia
Medicine
Physical therapy
Haplotype
Etiology
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痙性対麻痺31型:新規REEP1スプライス部位ドナー変異体と表現型変動の拡大【Powered by NICT】
2018
Parkinsonism & Related Disorders
Kamada Masaki
Kawarai Toshitaka
Miyamoto Ryosuke
Kawakita Rie
Tojima Yuki
Montecchiani Celeste
D’Onofrio Laura
Caltagirone Carlo
Orlacchio Antonio
Kaji Ryuji
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Hereditary Spastic Paraplegia Type 4 (SPG4): A Clinico-Genetic Study in a Large Cohort of Patients with Spastic Paraplegia (P5.075)
2016
Neurology
Marzia Mearini
Lucia Pedace
Antonella Casella
Montecchiani Celeste
Fabrizio Gaudiello
Marialuisa Miele
José Luiz Pedroso
Carlo Caltagirone
Roberto Massa
Orlando Graziani Povoas Barsottini
Renato P. Munhoz
Toshitaka Kawarai
Antonio Orlacchio
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Charcot‐Marie‐Tooth病2型の常染色体劣性型患者におけるSPG11/KIAA1840突然変異の同定
2016
Montecchiani Celeste
Pedace Lucia
Lo Giudice Temistocle
Casella Antonella
Mearini Marzia
Gaudiello Fabrizio
Pedroso Jose L
Terracciano Chiara
Caltagirone Carlo
Massa Roberto
Barsottini Orlando Gp
Kawarai Toshitaka
Orlacchio Antonio
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遺伝性強直性対麻ひタイプ4(SPG4)を持つ大きい患者集団における臨床‐遺伝学研究
2016
Pedace Lucia
Mearini Marzia
Casella Antonella
Montecchiani Celeste
Gaudiello Fabrizio
Miele Marialuisa
Massa Roberto
Caltagirone Carlo
Munhoz Renato P
Pedroso Jose L
Barsottini Orlando Gp
Kawarai Toshitaka
Orlacchio Antonio
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