REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Making heads or tails of phospholipids in mitochondria

(2011) Christof Osman et al.   JOURNAL OF CELL BIOLOGY

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

An intimate liaison: spatial organization of the endoplasmic reticulum–mitochondria relationship

(2010) Olga Martins de Brito et al.   EMBO JOURNAL

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

(2010) Nina A Schlipf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia

(2010) R. Battini et al.   EUROPEAN JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature

(2009) Andreas Tzschach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

(2009) C. Goizet et al.   BRAIN

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

MAM: more than just a housekeeper

(2009) Teruo Hayashi et al.   TRENDS IN CELL BIOLOGY

Hereditary optic neuropathies share a common mitochondrial coupling defect

(2008) Arnaud Chevrollier et al.   ANNALS OF NEUROLOGY

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

(2008) Katharina J Schlang et al.   BMC Medical Genetics

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

(2008) Daisuke Ito et al.   BRAIN

Mitofusin 2 Builds a Bridge between ER and Mitochondria

(2008) Carsten Merkwirth et al.   CELL

Recent advances in the genetics of spastic paraplegias

(2008) Giovanni Stevanin et al.   Current Neurology and Neuroscience Reports

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

(2008) Channa Hewamadduma et al.   NEUROGENETICS

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

(2008) Julien Cassereau et al.   NEUROGENETICS

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

(2008) R. D. Bo et al.   NEUROLOGY

Clinical and genetic study of a novel mutation in theREEP1gene

(2008) Shi Guo Liu et al.   SYNAPSE