✦ LIBER ✦

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

✍ Scribed by A Arnoldi; C Crimella; E Tenderini; A Martinuzzi; MG D'Angelo; O Musumeci; A Toscano; M Scarlato; M Fantin; N Bresolin; MT Bassi

Book ID: 110889223
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 631 KB
Volume: 81
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2011.01624.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

White matter lesions in spastic parapleg

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

✍ Roberta Biancheri; Marianna Ciccolella; Andrea Rossi; Alessandra Tessa; Denise C 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 356 KB

A clinical, genetic, and biochemical cha

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

✍ Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consigli 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views

Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati

Four novel SPG3A/atlastin mutations iden

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

✍ BN Smith; S Bevan; C Vance; P Renwick; P Wilkinson; C Proukakis; F Squitieri; A 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB

An autopsy case of adult-onset hereditar

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

✍ Satoshi O. Suzuki; Toru Iwaki; Kenji Arakawa; Hirokazu Furuya; Naoki Fujii; Akik 📂 Article 📅 2011 🏛 Springer-Verlag 🌐 English ⚖ 677 KB

Distinct mutations in STXBP2 are associa

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

✍ Pagel, J.; Beutel, K.; Lehmberg, K.; Koch, F.; Maul-Pavicic, A.; Rohlfs, A.-K.; 📂 Article 📅 2012 🏛 American Society of Hematology 🌐 English ⚖ 324 KB

MUTYH-associated polyposis – variability

MUTYH-associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations

✍ M Morak; A Laner; U Bacher; C Keiling; E Holinski-Feder 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 647 KB