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AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival
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JOURNAL OF CLINICAL INVESTIGATION (2012)
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
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ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
Teodora Chamova et al.
JOURNAL OF NEUROLOGY (2012)
Role of polynucleotide kinase/phosphatase in mitochondrial DNA repair
Nasser Tahbaz et al.
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Martine Tetreault et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Mark A. Corbett et al.
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Phenotypical Spectrum of Cerebellar Ataxia Associated With a Novel Mutation in the CA8 Gene, Encoding Carbonic Anhydrase (CA) VIII
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Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
Christian P. Schaaf et al.
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
Daniele Ghezzi et al.
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Cayman Ataxia-Related Protein is a Presynapse-Specific Caspase-3 Substrate
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NEUROCHEMICAL RESEARCH (2011)
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Torunn Fiskerstrand et al.
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
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Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia
Andrew H. Crosby et al.
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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
Orly Agamy et al.
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Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia
Sascha Vermeer et al.
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Mutations in PEX10 Are a Cause of Autosomal Recessive Ataxia
Luc Regal et al.
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Synaptic Acidification Enhances GABAA Signaling
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
R. Schuele et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations.
Detlef Bockenhauer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
Ute I. Scholl et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
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AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
Maria K. Tsaousidou et al.
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ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
Julie Mollet et al.
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Reduction in memory in passive avoidance learning, exploratory behaviour and synaptic plasticity in mice with a spontaneous deletion in the ubiquitin C-terminal hydrolase L1 gene
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EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Prolonged α-tocopherol deficiency decreases oxidative stress and unmasks α-tocopherol-dependent regulation of mitochondrial function in the brain
Sarah L. Cuddihy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Paraneoplastic syndromes of the CNS
Josep Dalmau et al.
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Alpha-mannosidosis
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GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
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Leukoencephalopathy upon disruption of the chloride channel ClC-2
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Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum
Michiru Hirasawa et al.
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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin et al.
NATURE GENETICS (2007)
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Francois Gros-Louis et al.
NATURE GENETICS (2007)
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Gert C. Scheper et al.
NATURE GENETICS (2007)
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
Patrick Van Bogaert et al.
ANNALS OF NEUROLOGY (2007)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V. Morgan et al.
NATURE GENETICS (2006)
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
KM Davey et al.
JOURNAL OF MEDICAL GENETICS (2006)
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek et al.
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The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
AK Anttonen et al.
NATURE GENETICS (2005)
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali et al.
HUMAN MOLECULAR GENETICS (2005)
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
KM Boycott et al.
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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
S Winterthun et al.
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I Le Ber et al.
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
MC Moreira et al.
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A novel mutation in SACS gene in a family from southern Italy
C Criscuolo et al.
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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
R Kleta et al.
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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
RJ Ferland et al.
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Mutations in the gene encoding gap junction protein α12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease
B Uhlenberg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
L-2-hydroxyglutaric aciduria:: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
M Topçu et al.
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A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration
DE Sleat et al.
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The effect of genotype on the natural history of eIF2B-related leukodystrophies
A Fogli et al.
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JM Bomar et al.
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Mutations in NHLRC1 cause progressive myoclonus epilepsy
EM Chan et al.
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Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
PL Pearl et al.
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Identification of PEX7 as the second gene involved in Refsum disease
DM van den Brink et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
G Van Goethem et al.
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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
PAJ Leegwater et al.
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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
MC Moreira et al.
NATURE GENETICS (2001)
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
H Date et al.
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hMRE11:: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
SA Pitts et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
PAJ Leegwater et al.
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Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
SCIENCE (2000)
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
P Bomont et al.
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The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation
N Aula et al.
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ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
JC Engert et al.
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