Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

(2015) A. Lossos et al.   NEUROLOGY

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The trials and tubule-ations of Rab6 involvement in Golgi-to-ER retrograde transport

(2014) Linda F. Heffernan et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

(2014) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation

(2014) A. Romagnolo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

(2014) Peng-Peng Zhu et al.   HUMAN MOLECULAR GENETICS

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

(2014) Julia Falk et al.   HUMAN MUTATION

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

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

Cholestenoic acids regulate motor neuron survival via liver X receptors

(2014) Spyridon Theofilopoulos et al.   JOURNAL OF CLINICAL INVESTIGATION

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations

(2014) Rocco Liguori et al.   JOURNAL OF NEUROLOGY

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

(2014) H. Shimazaki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neuronal Expression of GalNAc Transferase Is Sufficient to Prevent the Age-Related Neurodegenerative Phenotype of Complex Ganglioside-Deficient Mice

(2014) Denggao Yao et al.   JOURNAL OF NEUROSCIENCE

Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China

(2014) Yingying Luo et al.   Neurodegenerative Diseases

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Motor protein mutations cause a new form of hereditary spastic paraplegia

(2014) A. Caballero Oteyza et al.   NEUROLOGY

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

(2014) Y.-T. Liu et al.   NEUROLOGY

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

(2014) Maha Zaki et al.   NEUROPEDIATRICS

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

(2014) Iselin Marie Wedding et al.   PLoS One

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS Genetics

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

OnabotulinumtoxinA is Effective in Patients with Urinary Incontinence due to Neurogenic Detrusor Activity Regardless of Concomitant Anticholinergic Use or Neurologic Etiology

(2013) David Ginsberg et al.   ADVANCES IN THERAPY

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A NovelGBA2Gene Missense Mutation in Spastic Ataxia

(2013) Christina Votsi et al.   ANNALS OF HUMAN GENETICS

Untangling the web: Mechanisms underlying ER network formation

(2013) Uma Goyal et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

(2013) Gaurav V. Harlalka et al.   BRAIN

A critical role for the cholesterol-associated proteolipids PLP and M6B in myelination of the central nervous system

(2013) Hauke B. Werner et al.   GLIA

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

(2013) Nikhita Ajit Bolar et al.   HUMAN MOLECULAR GENETICS

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

(2013) Rita-Eva Varga et al.   HUMAN MUTATION

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

KIF1Cmutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

(2013) Talya Dor et al.   JOURNAL OF MEDICAL GENETICS

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

(2013) Alison M Elliott et al.   JOURNAL OF MEDICAL GENETICS

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

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

(2013) Andrea Citterio 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

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

(2013) Michael Gonzalez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

Mutation inFAM134Bcausing hereditary sensory neuropathy with spasticity in a Turkish family

(2013) Elif Ilgaz Aydinlar et al.   MUSCLE & NERVE

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

(2013) Ginevra Zanni et al.   NEUROGENETICS

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size

(2013) Robin W. Klemm et al.   Cell Reports

Autosomal Dominant Spastic Paraplegias

(2013) José Leal Loureiro et al.   JAMA Neurology

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss ofERLIN2function leads to juvenile primary lateral sclerosis

(2012) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Hereditary spastic paraplegia caused by a mutation in the VCP gene

(2012) S. T. de Bot et al.   BRAIN

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

(2012) C. Fassier et al.   Disease Models & Mechanisms

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

(2012) Salma M. Wakil et al.   European Journal of Medical Genetics

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

(2012) N. Collongues et al.   EUROPEAN JOURNAL OF NEUROLOGY

Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

(2012) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

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

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

Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration

(2012) Maria A. Gonzalez-Carmona et al.   LIVER INTERNATIONAL

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Drosophila mauveMutants Reveal a Role of LYST Homologs Late in the Maturation of Phagosomes and Autophagosomes

(2012) Mokhlasur Rahman et al.   TRAFFIC

Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

(2012) Petra Füger et al.   PLoS Genetics

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oxysterols as biomarkers in neurodegenerative diseases

(2011) Valerio Leoni et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

(2011) A Arnoldi et al.   CLINICAL GENETICS

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

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

(2011) Cyril Goizet et al.   HUMAN MUTATION

Gangliosides are essential in the protection of inflammation and neurodegeneration via maintenance of lipid rafts: elucidation by a series of ganglioside-deficient mutant mice

(2011) Yuhsuke Ohmi et al.   JOURNAL OF NEUROCHEMISTRY

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

2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

(2011) Phyllis Dan et al.   Lipids in Health and Disease

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

(2011) Anas M. Alazami et al.   NEUROGENETICS

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

(2010) Susanne A. Schneider et al.   ANNALS OF NEUROLOGY

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

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

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

(2010) Christophe Verny et al.   MITOCHONDRION

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

(2010) Olimpia Musumeci et al.   NEUROLOGICAL SCIENCES

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

(2009) Hiroko Hama   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) A. K. Erichsen et al.   BRAIN

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

(2009) A Boukhris et al.   CLINICAL GENETICS

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

(2009) Hilda T.H. Tsang et al.   HUMAN MOLECULAR GENETICS

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

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

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

(2009) Genny Orso et al.   NATURE

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

(2009) Umut Dursun et al.   NEUROGENETICS

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

(2009) R. Schule et al.   NEUROLOGY

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN 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

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

Recent advances in the genetics of spastic paraplegias

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

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

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

(2008) Cyril Goizet et al.   HUMAN MUTATION

The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Bothin Vitroandin Vivo

(2008) Peter Bross et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

(2008) A. Tessa et al.   JOURNAL OF NEUROLOGY

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

(2008) I. Zoller et al.   JOURNAL OF NEUROSCIENCE

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

(2008) Channa Hewamadduma et al.   NEUROGENETICS

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25

(2008) Lúcia Inês Macedo-Souza et al.   NEUROGENETICS

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

(2008) A. Orlacchio et al.   NEUROLOGY

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

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