Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Brain : a journal of neurology

• Publication date

  2004-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/BRAIN/AWH263PMID 15364701
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Peripheral neuropathy in uremic patients and in renal transplant recipients

  2004cited by this paper
• African American hypertensive nephropathy maps to a new locus on chromosome 9q31-q32.

  2003cited by this paper
• Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.

  2003cited by this paper
• Familial collapsing glomerulopathy: clinical, pathological and immunogenetic features.

  2003cited by this paper
• The Psychosocial Burden of Epilepsy

  2002cited by this paper
• Positional Candidate Approach for the Gene Responsible for Benign Adult Familial Myoclonic Epilepsy

  2002cited by this paper
• Familial focal segmental glomerulosclerosis

  2001cited by this paper
• Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy.

  2001cited by this paper
• Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

  2000cited by this paper
• A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31.

  2000cited by this paper
• NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

  2000cited by this paper
• Idiopathic collapsing glomerulopathy in children

  2000cited by this paper
• Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

  2000cited by this paper
• Familial steroid-resistant nephrotic syndromes: recent advances.

  2000cited by this paper
• Collapsing glomerulopathy in HIV and non-HIV patients: a clinicopathological and follow-up study.

  1999cited by this paper
• Collapsing glomerulopathy: expanding interest in a shrinking tuft.

  1999cited by this paper
• Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.

  1999cited by this paper
• Collapsing glomerulopathy: clinical characteristics and follow-up.

  1999cited by this paper
• Spectrum of disease in familial focal and segmental glomerulosclerosis.

  1999cited by this paper
• Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

  1998cited by this paper
• Collapsing glomerulopathy: a clinically and pathologically distinct variant of focal segmental glomerulosclerosis.

  1994cited by this paper
• Progressive Myoclonus Epilepsies: Clinical and Genetic Aspects

  1993cited by this paper
• Classification of progressive myoclonus epilepsies and related disorders

  1990cited by this paper
• Neurologic complications of renal disease.

  1989cited by this paper
• Kufs' disease: a critical reappraisal.

  1988cited by this paper
• Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology.

  1986influential reference
• Progressive myoclonus epilepsies: specific causes and diagnosis.

  1986influential reference
• Uremic encephalopathies: clinical, biochemical, and experimental features.

  1982cited by this paper
• The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

  1977cited by this paper
• Pigment Variant of Neuronal Ceroid-Lipofuscinosis (Kufs’ Disease)

  1977cited by this paper
• [Genetics in medicine].

  1969cited by this paper
• Principles of Human Genetics

  1961cited by this paper

• Drug-Induced Myoclonus: A Systematic Review

  2025cites this paper
• The Eastern Association of Electroencephalographers: A Canadian/USA success story

  2025cites this paper
• Myoclonus, Uremia, and Delirium in a Liver Transplant Recipient: A Case Report and Literature Review.

  2024cites this paper
• Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India

  2024cites this paper
• Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

  2024cites this paper
• Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings

  2024cites this paper
• The View of Pediatric Nephrotic Syndrome as a Podocytopathy

  2023cites this paper
• Collapsing glomerulopathy: unraveling varied pathogeneses

  2023cites this paper
• Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

  2023cites this paper
• Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations

  2023cites this paper
• Progressive myoclonic epilepsies—English Version

  2022cites this paper
• Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings.

  2022cites this paper
• Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

  2022cites this paper
• Progressive Myoklonusepilepsien

  2022cites this paper
• Clinical overview and phenomenology of movement disorders

  2021cites this paper
• Progressive Myoclonic Epilepsies

  2021cites this paper
• Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome

  2021cites this paper
• Genetics in Epilepsy.

  2021cites this paper
• A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure

  2021cites this paper
• Myoclonus

  2021cites this paper
• A RARE CAUSE OF KIDNEY FAILURE : CASE REPORT OF A YOUNG CHILD

  2020influential citation
• Movement Disorders and Renal Diseases

  2020cites this paper
• The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

  2020cites this paper
• Renal transplant recipient seizure practical management

  2020cites this paper
• Two sisters with myoclonus and ataxia

  2020cites this paper
• Drug Treatment of Progressive Myoclonic Epilepsy

  2020cites this paper
• Combining lexical and context features for automatic ontology extension

  2020cites this paper
• The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

  2019influential citation
• Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome

  2019cites this paper
• Movement Disorders in Metabolic Disorders

  2019cites this paper
• Myoclonic Status Epilepticus

  2018cites this paper
• Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

  2018cites this paper
• SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

  2017cites this paper
• Neurometabolic and neurodegenerative diseases in children.

  2017cites this paper
• Utilisation du séquençage à haut débit dans l’identification des gènes prédisposant à l’épilepsie et aux syndromes neurocutanés

  2017cites this paper
• Intralysosomal stabilization of glucocerebrosidase by LIMP-2: potential implications for efficacy of ERT

  2017cites this paper
• Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

  2017cites this paper
• ARare Cause ofMyoclonus A Cupric Conundrum

  2016cites this paper
• Unusual Cause and Presentation of Collapsing Focal Segmental Glomerulosclerosis

  2016cites this paper
• Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

  2016cites this paper
• A Rare Cause of Myoclonus: A Cupric Conundrum.

  2016cites this paper
• SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

  2016cites this paper
• Myoklonien

  2015cites this paper
• Idiopathic nephrotic syndrome in children: Genetic aspects

  2015cites this paper
• Role of LIMP‐2 in the intracellular trafficking of β‐glucosidase in different human cellular models

  2015cites this paper
• The progressive myoclonic epilepsies

  2015cites this paper
• Movement disorders in systemic diseases.

  2015cites this paper
• Absence of the lysosomal protein Limp‐2 attenuates renal injury in crescentic glomerulonephritis

  2014cites this paper
• 巣状分節性糸球体硬化症の組織像を呈した発達障害，下肢の痙性麻痺の8 歳女児例

  2014cites this paper
• Role of LIMP-2 in the trafficking of Acid β-Glucosidase

  2014cites this paper
• Role of LIMP-2 in the trafficking of Acid β- Glucosidase

  2014cites this paper
• A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

  2014cites this paper
• Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations

  2014cites this paper
• A novel SCARB2 mutation causing late‐onset progressive myoclonus epilepsy

  2013cites this paper
• A-Z of neurological practice

  2013cites this paper
• Myoclonus and epilepsy.

  2013cites this paper
• Episodic neurologic disorders: syndromes, genes, and mechanisms.

  2013cites this paper
• Progressive myoclonic epilepsies

  2013cites this paper
• Limited capacity of proximal tubular proteolysis in mice with proteinuria.

  2013cites this paper
• A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

  2012cites this paper
• Deep brain stimulation and cognition in Parkinson's disease: An eight‐year follow‐up study

  2012cites this paper
• Toxic agents causing cerebellar ataxias.

  2012cites this paper
• Generalized dystonia in a patient with a novel mutation in the GLUD1 gene

  2012cites this paper
• Metabolic and degenerative disorders.

  2012cites this paper
• Is transcranial sonography useful to distinguish drug‐induced parkinsonism from Parkinson's disease?

  2012cites this paper
• Inherited Disorders of the Glomerulus

  2012cites this paper
• Molecular Genetics and Metabolism

  2012cites this paper
• Early-onset Lafora body disease.

  2012cites this paper
• A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

  2012cites this paper
• A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

  2012cites this paper
• Young‐onset parkinsonism due to homozygous duplication of α‐synuclein in a consanguineous family

  2012cites this paper
• Myoclonic Epilepsy in Lysosomal Storage Disorders

  2011cites this paper
• Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2.

  2011cites this paper
• Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations

  2011cites this paper
• Myoclonic disorders: a practical approach for diagnosis and treatment

  2011cites this paper
• Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.

  2011cites this paper
• Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

  2011cites this paper
• Chapter 1 – Clinical overview and phenomenology of movement disorders

  2011cites this paper
• Milestones in myoclonus

  2011cites this paper
• Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

  2011influential citation
• Myoclonus.

  2011cites this paper
• Diseases frequently associated with epileptic seizures

  2010cites this paper
• Other Progressive Myoclonic Epilepsies

  2010cites this paper
• Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

  2009cites this paper
• Idiopathic Nephrotic Syndrome: Genetic Aspects

  2009cites this paper
• The autosomal recessively inherited progressive myoclonus epilepsies and their genes

  2009cites this paper
• SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure

  2009cites this paper
• Chapter 8 - Cortical Myoclonus and Epilepsy: Overlap and Differences

  2009cites this paper
• Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

  2008cites this paper
• Collapsing glomerulopathy associated with inherited mitochondrial injury.

  2008cites this paper
• Chapter 21 – Myoclonus: Phenomenology, Etiology, Physiology, and Treatment

  2007cites this paper
• A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases.

  2007cites this paper
• Symptomatic myoclonus.

  2006cites this paper
• Action myoclonus-renal failure syndrome: the definitive clinico-pathological description.

  2004cites this paper