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Myoclonus

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1901. Phenotypic features of myoclonus-dystonia in three kindreds. (PubMed)

Phenotypic features of myoclonus-dystonia in three kindreds. Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family).To investigate the clinical phenotype associated with M-D including motor symptoms, psychiatric disorders, and neuropsychological (...) in one family. Motor expression was variable, with onset of myoclonus or dystonia or both affecting the upper body and progression to myoclonus and dystonia in most cases. Psychiatric profiles revealed depression, obsessive-compulsive disorder, substance abuse, anxiety/panic/phobic disorders, and psychosis in two families, and depression only in the third family. Averaged scores from cognitive testing showed impaired verbal learning and memory in one family, impaired memory in the second family

2002 Neurology

1902. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. (PubMed)

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism

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2002 American Journal of Human Genetics

1903. Myoclonus associated with propafenone. (PubMed)

Myoclonus associated with propafenone. 8298383 1994 03 09 2013 11 21 0959-8138 308 6921 1994 Jan 08 BMJ (Clinical research ed.) BMJ Myoclonus associated with propafenone. 113 Chua T P TP Department of Cardiology, Royal Free Hospital, London. Farrell T T Lipkin D P DP eng Case Reports Journal Article England BMJ 8900488 0959-8138 68IQX3T69U Propafenone AIM IM Aged Aged, 80 and over Female Humans Myoclonus chemically induced Propafenone adverse effects 1994 1 8 1994 1 8 0 1 1994 1 8 0 0 ppublish

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1994 BMJ : British Medical Journal

1904. Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (PubMed)

Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. 9345091 1997 12 12 2018 11 13 0002-9297 61 5 1997 Nov American journal of human genetics Am. J. Hum. Genet. Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. 1205-9 Sainz J J Minassian B A BA Serratosa J M JM Gee M N MN Sakamoto L M LM Iranmanesh R R Bohlega S S Baumann R J RJ Ryan S S Sparkes R S RS Delgado-Escueta A V

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1997 American Journal of Human Genetics

1905. A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. (PubMed)

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is a rare, autosomal recessive disorder characterized by onset at age 6-16 years, generalized seizures, incapacitating myoclonus, and variable progression to cerebellar ataxia. The gene that causes EPM1, cystatin B, encodes a cysteine proteinase

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1998 American Journal of Human Genetics

1906. Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. (PubMed)

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME

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1996 Journal of Medical Genetics

1907. Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q (PubMed)

Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated

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1996 American Journal of Human Genetics

1908. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (PubMed)

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was mapped to within 0.3 cM from PFKL in chromosome 21q22.3. The gene for the proteinase inhibitor cystatin B was recently localized in the EPM1 critical region, and mutations were

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1997 American Journal of Human Genetics

1909. Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. (PubMed)

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. We have investigated pathogenic effects of the tRNA(Lys) A8344G mutation associated with the syndrome myoclonus epilepsy with ragged-red fibres (MERRF) by using fibroblasts and fibroblast-derived cytoplasmic hybrid cells harbouring different percentages of mutated

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1999 Biochemical Journal

1910. A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families (PubMed)

A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess

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2000 American Journal of Human Genetics

1911. Asymptomatic oculopalatal myoclonus: an unusual case (PubMed)

Asymptomatic oculopalatal myoclonus: an unusual case 11801519 2002 02 07 2018 11 13 0007-1161 86 1 2002 Jan The British journal of ophthalmology Br J Ophthalmol Asymptomatic oculopalatal myoclonus: an unusual case. 116 Cackett Peter P Weir Clifford R CR Minn-Din Zaw Z eng Case Reports Letter England Br J Ophthalmol 0421041 0007-1161 IM Brain Stem Craniocerebral Trauma complications Glaucoma, Open-Angle etiology Humans Magnetic Resonance Imaging methods Male Middle Aged Myoclonus etiology Ocular

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2002 The British journal of ophthalmology

1912. Palatal myoclonus and tinnitus in children. (PubMed)

Palatal myoclonus and tinnitus in children. 2024524 1991 06 03 2018 11 13 0093-0415 154 1 1991 Jan The Western journal of medicine West. J. Med. Palatal myoclonus and tinnitus in children. 98-102 Fox G N GN Department of Family and Community Medicine, Pennsylvania State University College of Medicine, Hershey. Baer M T MT eng Case Reports Journal Article Review United States West J Med 0410504 0093-0415 AIM IM Child Child, Preschool Female Humans Male Myoclonus diagnostic imaging

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1991 Western Journal of Medicine

1913. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (PubMed)

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. We have investigated the morphology, cytogenetics, and the fraction of mtDNA with the tRNA(Lys) A-->G(8344) mutation in three lipomas in a carrier of this mutation. The son of the patient had myoclonus epilepsy and ragged-red fibers syndrome. The fraction of mtDNA with the tRNA(Lys) mutation

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1993 American Journal of Human Genetics

1914. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (PubMed)

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. We have studied the segregation and manifestations of the tRNA(Lys) A-->G(8344) mutation of mtDNA. Three unrelated patients with myoclonus epilepsy and ragged-red fibers (MERRF) syndrome were investigated, along with 30 of their maternal relatives. Mutated mtDNA was not always found in the offspring of women carrying the tRNA(Lys) mutation. Four women had 10

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1992 American Journal of Human Genetics

1915. Vidarabine-associated encephalopathy and myoclonus. (PubMed)

Vidarabine-associated encephalopathy and myoclonus. A 24-year-old man with disseminated herpes zoster, which occurred 9 months after bone marrow transplantation for chronic myeloid leukemia, developed encephalopathy and immobilizing myoclonus after 7 days of vidarabine treatment (10 mg/kg of body weight per day). Only mild hepatic dysfunction was a risk factor for a toxic reaction. After the vidarabine therapy was stopped, the symptoms worsened until treatment with hydration, large doses

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1986 Antimicrobial Agents and Chemotherapy

1916. Myoclonus associated with treatment with high doses of morphine: the role of supplemental drugs. (PubMed)

Myoclonus associated with treatment with high doses of morphine: the role of supplemental drugs. To estimate the prevalence of important side effects in patients with malignant disease who were receiving high doses of morphine as part of their palliative treatment.Data on patients were collected over 12 months.Two palliative care units in Western Australia.19 Patients with malignant disease who were receiving morphine either subcutaneously or orally as the main analgesic. 10 Patients receiving (...) with the supplemental drugs taken by the patients.Plasma morphine and electrolyte concentrations were measured and a full history taken for each patient. Thirteen of the 19 patients had an important side effect; 12 of them had myoclonus and one had hyperalgesia of the skin. Plasma morphine concentrations were similar in patients with and without myoclonus, ranging from 158 to 3465 nmol/l and 39 to 2821 nmol/l respectively. Eight of the patients with side effects were taking an antipsychotic drug concurrently

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1989 BMJ : British Medical Journal

1917. Myoclonus associated with high doses of morphine. (PubMed)

Myoclonus associated with high doses of morphine. 2508871 1989 12 08 2018 11 13 0959-8138 299 6700 1989 Sep 09 BMJ (Clinical research ed.) BMJ Myoclonus associated with high doses of morphine. 683-4 eng Comment Letter England BMJ 8900488 0959-8138 76I7G6D29C Morphine AIM IM BMJ. 1989 Jul 15;299(6692):150-3 2475196 Dose-Response Relationship, Drug Humans Morphine adverse effects Myoclonus chemically induced 1989 9 9 1989 9 9 0 1 1989 9 9 0 0 ppublish 2508871 PMC1837587 Lancet. 1987 Feb 7;1(8528

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1989 BMJ : British Medical Journal

1918. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. (PubMed)

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited

2006 Neurology

1919. Speech-activated myoclonus: an uncommon form of action myoclonus. (PubMed)

Speech-activated myoclonus: an uncommon form of action myoclonus. We describe an unusual form of facial myoclonus activated by speech in 3 patients with different underlying neurological diseases and present the electrophysiological investigations and results of structural and functional imaging. In 1 of 2 patients in whom jerk-locked electroencephalogram (EEG) back-averaging was done, a cortical potential clearly preceded the facial jerks. In the second patient, a cortical potential preceding

2005 Movement Disorders

1920. Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. (PubMed)

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. Cortical tremor, a form of rhythmic cortical myoclonus (rhythmic CM), and epilepsy have been described in families with autosomal dominant inheritance. Linkage analyses revealed two putative loci on chromosome 2p and 8q. Clinical photosensitivity was not a prominent feature in such families. We describe a large Italian family with rhythmic CM, photosensitivity, and epilepsy.Twenty (...) with generalized tremor in early infancy ("tremulous arousals"). Jerk-locked back-averaging of rhythmic CM of six affected individuals, documented a premyoclonic EEG correlate. C-reflex at rest was present in two affected adults. Linkage analyses excluded mapping to the 2p11.1 and 8q23.3 loci.Clinical variability and severity of the phenotypes in this family are in line with those of previously described pedigrees with autosomal dominant cortical myoclonus and epilepsy. In this family, a progression

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2006 Epilepsia

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