Neurogenetics

Splicing: is there an alternative contribution to Parkinson’s disease?

Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease

Atsushi Sasaki, Akiyoshi Kakita, Kunihiro Yoshida, Takuya Konno, Takeshi Ikeuchi, Shintaro Hayashi, Hidenori Matsuo, Kei Shioda

Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice

Andy W. Yang, Andrew J. Sachs, Arne M. Nystuen

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations

Carlos Córdova-Fletes, Ma. Guadalupe Domínguez, Ilse Delint-Ramirez, Herminia G. Martínez-Rodríguez, Ana María Rivas-Estilla, Patricio Barros-Núñez, Rocío Ortiz-López, Vivian Alejandra Neira

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

Muhammad Ikram Ullah, Arsalan Ahmad, Syed Irfan Raza, Ali Amar, Amjad Ali, Attya Bhatti, Peter John, Aisha Mohyuddin, Wasim Ahmad, Muhammad Jawad Hassan

Mutations in ARID2 are associated with intellectual disabilities

Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Juusola, Anne H. O’Donnell-Luria, Yufeng Shen, Wendy K. Chung

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

Anne Noreau, Roberta La Piana, Camille Marcoux, Patrick A. Dion, Bernard Brais, Geneviève Bernard, Guy A. Rouleau

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Felix Distelmaier, Tobias B. Haack, Claudia B. Catarino, Constanze Gallenmüller, Richard J. Rodenburg, Tim M. Strom, Fabian Baertling, Thomas Meitinger, Ertan Mayatepek, Holger Prokisch, Thomas Klopstock

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

T. M. Pierson, Mani Nezhad, Matthew A. Tremblay, Richard Lewis, Derek Wong, Noriko Salamon, Nancy Sicotte

Acknowledgement to Referees 2014/2015