𝔖 Bobbio Scriptorium
✦   LIBER   ✦

ScreeningLRRK2gene mutations in patients with Parkinson’s disease in Ghana

✍ Scribed by Roberto Cilia; Francesca Sironi; Albert Akpalu; Momodou Cham; Fred Stephen Sarfo; Tiziana Brambilla; Alba Bonetti; Marianna Amboni; Stefano Goldwurm; Gianni Pezzoli

Publisher
Springer
Year
2011
Tongue
English
Weight
154 KB
Volume
259
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Glucocerebrosidase gene mutations are as
Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia
✍ Anton Emelyanov; Tatyana Boukina; Andrey Yakimovskii; Tatyana Usenko; Alesya Dro 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB 👁 1 views

FIG. 1. MRI showed symmetric (A) hypointensity signal on T1weighted imaging and (B) hyperintensity signal on T2-weighted imaging in bilateral substantia nigra on admission. A repeated MRI after 3 months showed resolution of the lesions on (C) T2-weighted imaging and (D) T1-weighted imaging.

LRRK2 mutations and risk variants in Jap
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease
✍ Cyrus P. Zabetian; Mitsutoshi Yamamoto; Alexis N. Lopez; Hiroshi Ujike; Ignacio 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 1 views

## Abstract Mutations in the leucine‐rich repeat kinase 2 (__LRRK2__) gene are the most common genetic determinant of Parkinson's disease (PD) in European‐derived populations, but far less is known about __LRRK2__ mutations and susceptibility alleles in Asians. To address this issue, we sequenced t

Glucocerebrosidase gene mutations are as
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
✍ Elvira V. De Marco; Grazia Annesi; Patrizia Tarantino; Francesca E. Rocca; Giova 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 1 views

## Abstract Recent studies have reported an association between the glucocerebrosidase (__GBA__) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found

Glucocerebrosidase gene mutations in pat
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
✍ Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 1 views

## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2

Novel parkin mutations detected in patie
Novel parkin mutations detected in patients with early-onset Parkinson's disease
✍ Aida M. Bertoli-Avella; José L. Giroud-Benitez; Ali Akyol; Egberto Barbosa; Onno 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB

## Abstract A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of __parkin__/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relat