TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1

(2011) Juan Du et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

(2010) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

(2009) Danielle Seilhean et al.   ACTA NEUROPATHOLOGICA

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

(2007) Shi Guo Liu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES