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JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
Andres Moreno-De-Luca et al.
JOURNAL OF MEDICAL GENETICS (2011)
Epigenetic Regulation of Motor Neuron Cell Death through DNA Methylation
Barry A. Chestnut et al.
JOURNAL OF NEUROSCIENCE (2011)
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
Christophe Verny et al.
MITOCHONDRION (2011)
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1
Emmanuel J. Botzolakis et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
Anas M. Alazami et al.
NEUROGENETICS (2011)
Mechanisms Determining the Morphology of the Peripheral ER
Yoko Shibata et al.
CELL (2010)
Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia
Richard Butler et al.
DISEASE MODELS & MECHANISMS (2010)
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia
Joanna M. Solowska et al.
HUMAN MOLECULAR GENETICS (2010)
Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35)
Katherine J. Dick et al.
HUMAN MUTATION (2010)
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
Seong H. Park et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis
Rebecca Schuele et al.
JOURNAL OF LIPID RESEARCH (2010)
Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway
Coralie Fassier et al.
NATURE NEUROSCIENCE (2010)
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
K. G. Meilleur et al.
NEUROGENETICS (2010)
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
Amir Boukhris et al.
NEUROGENETICS (2010)
A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
Mikolaj Slabicki et al.
PLOS BIOLOGY (2010)
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Annemieke J. M. H. Verkerk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes
Lucia Ines Macedo-Souza et al.
ANNALS OF HUMAN GENETICS (2009)
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
Jennifer L. Orthmann-Murphy et al.
BRAIN (2009)
A Class of Dynamin-like GTPases Involved in the Generation of the Tubular ER Network
Junjie Hu et al.
CELL (2009)
Identification of a new form of autosomal dominant spastic paraplegia
S. H. Subramony et al.
CLINICAL GENETICS (2009)
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity
A. Boukhris et al.
CLINICAL GENETICS (2009)
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
Hilda T. H. Tsang et al.
HUMAN MOLECULAR GENETICS (2009)
Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin
Genny Orso et al.
NATURE (2009)
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
Umut Dursun et al.
NEUROGENETICS (2009)
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
Maria K. Tsaousidou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
Pengfei Lin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
Sylvain Hanein et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Neuropathy target esterase gene mutations cause motor neuron disease
Shirley Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia - SPG11, SPG15, and further genetic heterogeneity
Amir Boukhris et al.
ARCHIVES OF NEUROLOGY (2008)
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia
D. V. K. Pantakani et al.
CLINICAL GENETICS (2008)
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
Lucia Ines Macedo-Souza et al.
NEUROGENETICS (2008)
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
K. J. Dick et al.
NEUROLOGY (2008)
Silver syndrome variant of hereditary spastic paraplegia -: A locus to 4p and allelism with SPG4
A. Orlacchio et al.
NEUROLOGY (2008)
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
Zhao Guo-hua et al.
CHINESE MEDICAL JOURNAL (2008)
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia
J. Schickel et al.
EUROPEAN JOURNAL OF NEUROLOGY (2007)
A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
Sylvain Hanein et al.
HUMAN GENETICS (2007)
BMP gradients steer nerve growth cones by a balancing act of LIM kinase and Slingshot phosphatase on ADF/cofilin
Zhexing Wen et al.
JOURNAL OF CELL BIOLOGY (2007)
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
A. K. Erichsen et al.
EUROPEAN JOURNAL OF NEUROLOGY (2007)
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
G. Stevanin et al.
NEUROLOGY (2007)
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
M. Namekawa et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin et al.
NATURE GENETICS (2007)
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules
Xinnan Wang et al.
NATURE NEUROSCIENCE (2007)
The Hedgehog, TGF-β/BMP and Wnt families of morphogens in axon guidance
Frederic Charron et al.
AXON GROWTH AND GUIDANCE (2007)
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Christel Depienne et al.
JOURNAL OF MEDICAL GENETICS (2007)
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Paul N. Valdmanis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
C. Beetz et al.
NEUROLOGY (2006)
The Spastic Paraplegia Rating Scale (SPRS) -: A reliable and valid measure of disease severity
R. Schuele et al.
NEUROLOGY (2006)
Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER
Duncan T. Browman et al.
JOURNAL OF CELL SCIENCE (2006)
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
Stephan Zuchner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
Ashraf U. Mannan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
Stephan Klebe et al.
BRAIN (2006)
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
A Bouhouche et al.
JOURNAL OF MEDICAL GENETICS (2006)
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
S Al-Yahyaee et al.
NEUROLOGY (2006)
Spastic paraparesis as a manifestation of Leber's disease
F Clarençon et al.
JOURNAL OF NEUROLOGY (2006)
A class of membrane proteins shaping the tubular endoplasmic reticulum
GK Voeltz et al.
CELL (2006)
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
M Pirozzi et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
Elena I. Rugarli et al.
TRENDS IN MOLECULAR MEDICINE (2006)
Disease-related phenotypes in a Drosphila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
G Orso et al.
JOURNAL OF CLINICAL INVESTIGATION (2005)
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
M Nolden et al.
CELL (2005)
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
A Orlacchio et al.
ANNALS OF NEUROLOGY (2005)
Clinical and genetic study of a large SPG4 Italian family
A Orlacchio et al.
MOVEMENT DISORDERS (2005)
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
LI Macedo-Souza et al.
ANNALS OF NEUROLOGY (2005)
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
N Bouslam et al.
ANNALS OF NEUROLOGY (2005)
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
PA Wilkinson et al.
JOURNAL OF MEDICAL GENETICS (2005)
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger et al.
NATURE GENETICS (2004)
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
IK Svenson et al.
NEUROGENETICS (2004)
The hereditary Spastic Paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
N Trotta et al.
CURRENT BIOLOGY (2004)
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
GC DeLuca et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2004)
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
AM Dumitrescu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders
Clare N. Lynex et al.
BMC NEUROLOGY (2004)
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
IA Meijer et al.
ANNALS OF NEUROLOGY (2004)
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
SC Blumen et al.
ANNALS OF NEUROLOGY (2003)
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
L Atorino et al.
JOURNAL OF CELL BIOLOGY (2003)
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
S Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
JH Chai et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
MA Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
E Reid et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
E Eymard-Pierre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Further evidence for a fourth gene causing X-linked pure spastic paraplegia
A Starling et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
H Patel et al.
NATURE GENETICS (2002)
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
M Zortea et al.
JOURNAL OF MEDICAL GENETICS (2002)
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
EM Valente et al.
ANNALS OF NEUROLOGY (2002)
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
JJ Hansen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
A Errico et al.
HUMAN MOLECULAR GENETICS (2002)
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
P Corona et al.
ANNALS OF NEUROLOGY (2002)
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
XP Zhao et al.
NATURE GENETICS (2001)
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
V Tiranti et al.
HUMAN MOLECULAR GENETICS (2000)
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
JC Lindsey et al.
JOURNAL OF MEDICAL GENETICS (2000)
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28
G Vazza et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
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