Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryExome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardationMutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humansCA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitR-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxiasAtaxia.Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Interpretation of genetic testing: variants of unknown significance.Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.Neuroferritinopathy: a new inborn error of iron metabolismPurkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients´ experiences.Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.Milestones in ataxiaInherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxiaDiagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.Genes and genetic testing in hereditary ataxias.Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyEFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Epilepsy in a patient with ataxia caused by vitamin E deficiency.Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia.Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Hereditary Cerebellar Ataxias: A Korean Perspective.Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxiaPseudodominant AOA2.Childhood cerebellar ataxia.Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.Clinical neurogenetics: autosomal dominant spinocerebellar ataxiaAberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Otoneurological Abnormalities in Patients with Friedreich's Ataxia.
P2860
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P2860
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@ast
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@en
type
label
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@ast
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@en
prefLabel
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@ast
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@en
P1433
P1476
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
@en
P2093
Brent L Fogel
Susan Perlman
P304
P356
10.1016/S1474-4422(07)70054-6
P577
2007-03-01T00:00:00Z