Literature DB >> 23055083

Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial.

Pasquale Striano, Elan D Louis, Mario Manto.   

Abstract

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Year:  2013        PMID： 23055083     DOI： 10.1007/s12311-012-0419-x

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  13 in total

Review 1.  Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry.

Authors:  Elan D Louis
Journal:  Lancet Neurol       Date:  2010-05-05       Impact factor: 44.182

2.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Authors:  M Mikami; T Yasuda; A Terao; M Nakamura; S Ueno; H Tanabe; T Tanaka; T Onuma; Y Goto; S Kaneko; A Sano
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

Authors:  Antonietta Coppola; Lia Santulli; Luigi Del Gaudio; Carlo Minetti; Salvatore Striano; Federico Zara; Pasquale Striano
Journal:  Epilepsia       Date:  2011-03-22       Impact factor: 5.864

4.  Increased cortical hyperexcitability and exaggerated myoclonus with aging in benign adult familial myoclonus epilepsy.

Authors:  Takefumi Hitomi; Akio Ikeda; Takayuki Kondo; Hisaji Imamura; Morito Inouchi; Riki Matsumoto; Kiyohito Terada; Masutaro Kanda; Masao Matsuhashi; Takashi Nagamine; Hiroshi Shibasaki; Ryosuke Takahashi
Journal:  Mov Disord       Date:  2011-04-19       Impact factor: 10.338

5.  (1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.

Authors:  Pasquale Striano; Ferdinando Caranci; Raffaella Di Benedetto; Fabio Tortora; Federico Zara; Salvatore Striano
Journal:  Epilepsia       Date:  2008-11-24       Impact factor: 5.864

6.  Familial cortical tremor with epilepsy and cerebellar pathological findings.

Authors:  Anne-Fleur van Rootselaar; Eleonora Aronica; Ernst N H Jansen Steur; Johanna M Rozemuller-Kwakkel; Rob A I de Vos; Marina A J Tijssen
Journal:  Mov Disord       Date:  2004-02       Impact factor: 10.338

7.  A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Authors:  Pasquale Striano; Rosanna Chifari; Salvatore Striano; Maurizio de Fusco; Maurizio Elia; Renzo Guerrini; Giorgio Casari; Maria Paola Canevini
Journal:  Epilepsia       Date:  2004-02       Impact factor: 5.864

8.  Decreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremor.

Authors:  Arthur W G Buijink; Matthan W A Caan; Marina A J Tijssen; Johannes M Hoogduin; Natasha M Maurits; Anne-Fleur van Rootselaar
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

9.  Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Authors:  Francesca Madia; Pasquale Striano; Carlo Di Bonaventura; Arturo de Falco; Fabrizio A de Falco; Mario Manfredi; Giorgio Casari; Salvatore Striano; Carlo Minetti; Federico Zara
Journal:  Neurogenetics       Date:  2008-01-30       Impact factor: 2.660

10.  Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

Authors:  R Guerrini; P Bonanni; A Patrignani; P Brown; L Parmeggiani; P Grosse; P Brovedani; F Moro; P Aridon; R Carrozzo; G Casari
Journal:  Brain       Date:  2001-12       Impact factor: 13.501
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  4 in total

1.  Disrupted modular architecture of cerebellum in schizophrenia: a graph theoretic analysis.

Authors:  Dae-Jin Kim; Jerillyn S Kent; Amanda R Bolbecker; Olaf Sporns; Hu Cheng; Sharlene D Newman; Aina Puce; Brian F O'Donnell; William P Hetrick
Journal:  Schizophr Bull       Date:  2014-04-29       Impact factor: 9.306

Review 2.  Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

Authors:  Tom van den Ende; Sarvi Sharifi; Sandra M A van der Salm; Anne-Fleur van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-01-23

3.  Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.

Authors:  Radha Mahadevan; Rahul C Bhoyar; Natarajan Viswanathan; Raskin Erusan Rajagopal; Bobby Essaki; Varun Suroliya; Rachel Chelladurai; Saravanan Sankaralingam; Ganesan Shanmugam; Sriramakrishnan Vayanakkan; Uzma Shamim; Aradhana Mathur; Abhinav Jain; Mohamed Imran; Mohammed Faruq; Vinod Scaria; Sridhar Sivasubbu; Shantaraman Kalyanaraman
Journal:  Brain Commun       Date:  2020-12-19

Review 4.  Molecular Mechanisms in Pentanucleotide Repeat Diseases.

Authors:  Joana R Loureiro; Ana F Castro; Ana S Figueiredo; Isabel Silveira
Journal:  Cells       Date:  2022-01-08       Impact factor: 6.600
  4 in total

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