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Neurogenetics Section edited by Massimo Pandolfo

This section focuses on the genetic aspects in neurology. Topics include, but are not limited to, inherited neuromuscular and neurodegenerative diseases, clinical genetics, molecular mechanisms, genetic testing of neurological disorders, mutation screenings, genetics of complex diseases and pharmacogenetics.

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1.

Research article   Open Access

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1

Florian Mainberger, Nikolai H Jung, Martin Zenker, Ute Wahlländer, Leonie Freudenberg, Susanne Langer, Steffen Berweck, Tobias Winkler, Andreas Straube, Florian Heinen, Sofia Granström, Victor-Felix Mautner, Karen Lidzba, Volker Mall BMC Neurology 2013, 13:131 (2 October 2013)

Abstract | Provisional PDF

2.

Research article   Open Access

Genetic analysis of the FBXO42 gene in Chinese Han patients with Parkinson’s disease

Kai Gao, Xiong Deng, Wen Zheng, Zhi Song, Anding Zhu, Xiaofei Xiu, Hao Deng BMC Neurology 2013, 13:125 (25 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

3.

Case report   Open Access

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger P Rossi, Giorgio Gimelli, Carl Bazil BMC Neurology 2013, 13:43 (10 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

4.

Research article   Open Access

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

Sarah Wiethoff, Ahmad Zhour, Ludger Schöls, Manuel Dominik Fischer BMC Neurology 2012, 12:143 (23 November 2012)

Abstract | Full text | PDF | PubMed

5.

Case report   Open Access

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Aia Jønch, Else Danielsen, Carsten Thomsen, Per Meden, Kirsten Svenstrup, Jørgen Nielsen BMC Neurology 2012, 12:108 (26 September 2012)

Abstract | Full text | PDF | PubMed

6.

Research article   Open Access

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

Peter Hedera, Jianfeng Xiao, Andreas Puschmann, Dragana Momčilović, Steve W Wu, Mark S LeDoux BMC Neurology 2012, 12:93 (18 September 2012)

Abstract | Full text | PDF | PubMed

7.

Case report   Open Access

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report

Troels Nielsen, Skirmante Mardosiene, Annemette Løkkegaard, Jette Stokholm, Susanne Ehrenfels, Sara Bech, Lars Friberg, Jens Nielsen, Jørgen E Nielsen BMC Neurology 2012, 12:73 (13 August 2012)

Abstract | Full text | PDF | PubMed

8.

Research article   Open Access Highly Accessed

Huntington's Disease and its therapeutic target genes: a global functional profile based on the HD Research Crossroads database

Ravi Kiran Kalathur, Miguel A Hernández-Prieto, Matthias E Futschik BMC Neurology 2012, 12:47 (28 June 2012)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

9.

Research article   Open Access

Hepatic mitochondrial dysfunction in Friedreich Ataxia

Sven H Stüwe, Oliver Goetze, Larissa Arning, Matthias Banasch, Wolfgang E Schmidt, Ludger Schöls, Carsten Saft BMC Neurology 2011, 11:145 (15 November 2011)

Abstract | Full text | PDF | PubMed

10.

Case report   Open Access Highly Accessed

Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

Karen M Moody, Lawrence B Schonberger, Ryan A Maddox, Wen-Quan Zou, Laura Cracco, Ignazio Cali BMC Neurology 2011, 11:136 (31 October 2011)

Abstract | Full text | PDF | PubMed

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