𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

✍ Scribed by Andrea Parolin Jackowski; Maura Regina Laureano; Marco Antônio Del’Aquilla; Luciana Monteiro de Moura; Idaiane Assunção; Ivaldo Silva; José Salomão Schwartzman

Book ID
111099602
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
193 KB
Volume
24
Category
Article
ISSN
1360-2322

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Abnormal brain tryptophan metabolism and
Abnormal brain tryptophan metabolism and clinical correlates in Tourette syndrome
✍ Michael Behen; Harry T. Chugani; Csaba Juhász; Emily Helder; Albert Ho; Mohsin M 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB

## Abstract Symptoms in Tourette syndrome (TS) are likely related to abnormalities involving multiple neurotransmitter systems in striatal‐thalamo‐cortical circuitry. Although prior studies have found abnormal levels of tryptophan, serotonin, and their metabolites in blood, cerebrospinal fluid and

Syndromes of neurodegeneration with brai
Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations
✍ Susanne A. Schneider; John Hardy; Kailash P. Bhatia 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 862 KB

## Abstract In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase–associated neurodegeneration (PKAN, NBIA1) and PLA2G6‐associated neurodegeneration (PLAN, NBIA2), se