Genetic and phenotypic characterization of complex hereditary spastic paraplegia

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

(2015) Karine Choquet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

(2014) Ellen Cottenie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Molecular aspects of hereditary spastic paraplegia

(2014) Anne Noreau et al.   EXPERIMENTAL CELL RESEARCH

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features

(2014) Maryam Malakouti-Nejad et al.   NEUROSCIENCE LETTERS

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

(2013) Claudia Manzoni et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The pallidopyramidal syndromes

(2013) Eleanna Kara et al.   CURRENT OPINION IN NEUROLOGY

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

(2013) Conceição Bettencourt et al.   JOURNAL OF NEUROLOGY

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

(2013) Martial Mallaret et al.   JOURNAL OF NEUROLOGY

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

(2013) A. Tucci et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data

(2013) Christos Proukakis et al.   MOVEMENT DISORDERS

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Autosomal Dominant Spastic Paraplegias

(2013) José Leal Loureiro et al.   JAMA Neurology

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

(2012) Maria Conceição Pereira et al.   GENETICS IN MEDICINE

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Clinical variability and l-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11

(2012) C. M. Everett et al.   JOURNAL OF NEUROLOGY

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

(2012) Claudia Dufke et al.   NEUROGENETICS

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

Simple and Reliable Determination of the Modified Rankin Scale Score in Neurosurgical and Neurological Patients

(2012) Nihar Patel et al.   NEUROSURGERY

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

(2012) Li Cao et al.   PARKINSONISM & RELATED DISORDERS

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males

(2011) Christos Proukakis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

(2011) Arianna Guidubaldi et al.   MOVEMENT DISORDERS

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Exome sequencing reveals SPG11 mutations causing juvenile ALS

(2011) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

(2010) Laura Southgate et al.   NEUROGENETICS

Child Neurology: Hereditary spastic paraplegia in children

(2010) S. T. de Bot et al.   NEUROLOGY

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

(2010) Bernard Puech et al.   OPHTHALMOLOGY

SPG11mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

(2009) Hanna Örlén et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

(2009) C Crimella et al.   JOURNAL OF MEDICAL GENETICS

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

SPG11 – the most common type of recessive spastic paraplegia in Norway?

(2008) A. K. Erichsen et al.   ACTA NEUROLOGICA SCANDINAVICA

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

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

(2008) Christian Beetz et al.   BRAIN

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

(2008) C. Paisan-Ruiz et al.   EUROPEAN JOURNAL OF NEUROLOGY

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

(2008) Paola S. Denora et al.   HUMAN MUTATION

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

(2008) Peter Bauer et al.   NEUROGENETICS

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

(2008) C. Paisan-Ruiz et al.   NEUROLOGY