相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy
X. X. Lei et al.
EUROPEAN JOURNAL OF NEUROLOGY (2019)
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Nicolas Chatron et al.
ANNALS OF NEUROLOGY (2018)
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment
Emmanuel Roze et al.
CURRENT OPINION IN NEUROLOGY (2018)
Myoclonus in Angelman syndrome
Sarah F. Pollack et al.
EPILEPSY & BEHAVIOR (2018)
The Genetic Nomenclature of Recessive Cerebellar Ataxias
Malco Rossi et al.
MOVEMENT DISORDERS (2018)
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Hiroyuki Ishiura et al.
NATURE GENETICS (2018)
Electrophysiologic testing aids diagnosis and subtyping of myoclonus
Rodi Zutt et al.
NEUROLOGY (2018)
New discoveries in progressive myoclonus epilepsies: a clinical outlook
Shweta Bhat et al.
EXPERT REVIEW OF NEUROTHERAPEUTICS (2018)
Progressive Myoclonus Ataxia: Time for a New Definition?
Sterre van der Veen et al.
MOVEMENT DISORDERS (2018)
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy
M. Rydzanicz et al.
CLINICAL GENETICS (2017)
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Ida Annunziata et al.
EXPERT OPINION ON ORPHAN DRUGS (2017)
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy
Karine Poirier et al.
HUMAN MUTATION (2017)
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study
Sinem Tunc et al.
PARKINSONISM & RELATED DISORDERS (2017)
The presence of depression and anxiety do not distinguish between functional jerks and cortical myoclonus
R. Zutt et al.
PARKINSONISM & RELATED DISORDERS (2017)
Myoclonus subtypes in tertiary referral center. Cortical myoclonus and functional jerks are common
R. Zutt et al.
CLINICAL NEUROPHYSIOLOGY (2017)
KIF5A Mutations Cause an Infantile Onset Phenotype Including Severe Myoclonus with Evidence of Mitochondrial Dysfunction
Jessica Duis et al.
ANNALS OF NEUROLOGY (2016)
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series
Natalie S. Ryan et al.
LANCET NEUROLOGY (2016)
Launching the movement disorders society genetic mutation database (MDSGene)
Christina M. Lill et al.
MOVEMENT DISORDERS (2016)
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force
Connie Marras et al.
MOVEMENT DISORDERS (2016)
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini et al.
NEUROLOGY (2016)
To jerk or not to jerk: A clinical pathophysiology of myoclonus
E. Apartis et al.
REVUE NEUROLOGIQUE (2016)
Movement disorders in mitochondrial diseases
C. Tranchant et al.
REVUE NEUROLOGIQUE (2016)
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency
Juan Dario Ortigoza Escobar et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2016)
Unverricht-Lundborg disease
Arielle Crespel et al.
EPILEPTIC DISORDERS (2016)
KCTD7-related progressive myoclonus epilepsy
Patrick Van Bogaert
EPILEPTIC DISORDERS (2016)
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Niccolo E. Mencacci et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Gemma L. Carvill et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment
Martje E. van Egmond et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R. Coughlin et al.
JOURNAL OF MEDICAL GENETICS (2015)
Relationship between the non-motor items of the MDS-UPDRS and Quality of Life in patients with Parkinson's disease
Matej Skorvanek et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)
A novel diagnostic approach to patients with myoclonus
Rodi Zutt et al.
NATURE REVIEWS NEUROLOGY (2015)
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Rhys H. Thomas et al.
NEUROLOGY (2015)
Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy
Marc Manix et al.
NEUROSURGICAL FOCUS (2015)
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Mikko Muona et al.
NATURE GENETICS (2015)
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
Mathieu Anheim et al.
JOURNAL OF NEUROLOGY (2014)
Ramsay Hunt Syndrome: Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation
Martje E. van Egmond et al.
MOVEMENT DISORDERS (2014)
The role of the cerebellum in the pathogenesis of cortical myoclonus
Christos Ganos et al.
MOVEMENT DISORDERS (2014)
The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations
Maria Stamelou et al.
MOVEMENT DISORDERS (2014)
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
Kerstin Hallmann et al.
NEUROLOGY (2014)
Progressive myoclonic epilepsies Definitive and still undetermined causes
Silvana Franceschetti et al.
NEUROLOGY (2014)
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Lysa Boisse Lomax et al.
BRAIN (2013)
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
M. Cadieux-Dion et al.
CLINICAL GENETICS (2013)
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L. Carvill et al.
NATURE GENETICS (2013)
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
Jie Zhou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Autosomal Dominant Familial Dyskinesia and Facial Myokymia Single Exome Sequencing Identifies a Mutation in Adenylyl Cyclase 5
Ying-Zhang Chen et al.
ARCHIVES OF NEUROLOGY (2012)
The startle syndromes: Physiology and treatment
Yasmine E. M. Dreissen et al.
EPILEPSIA (2012)
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
Jenni M. Elo et al.
HUMAN MOLECULAR GENETICS (2012)
Fixing the broken system of genetic locus symbols Parkinson disease and dystonia as examples
Connie Marras et al.
NEUROLOGY (2012)
Cortical myoclonus in childhood and juvenile onset Huntington's disease
Davide Rossi Sebastiano et al.
PARKINSONISM & RELATED DISORDERS (2012)
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
Todor Arsov 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.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
Saul A. Mullen et al.
ARCHIVES OF NEUROLOGY (2011)
Milestones in Myoclonus
Hiroshi Shibasaki et al.
MOVEMENT DISORDERS (2011)
TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
Antonio Falace et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Management of patients with myoclonus: available therapies and the need for an evidence-based approach
Joke M. Dijk et al.
LANCET NEUROLOGY (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
Robert Steinfeld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG
Shiroh Miura et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2009)
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Samuel E. Berkovic et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
Nardo Nardocci et al.
MOVEMENT DISORDERS (2008)
Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'
Anne-Fleur van Rootselaar et al.
MOVEMENT DISORDERS (2007)
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
Patrick Van Bogaert et al.
ANNALS OF NEUROLOGY (2007)
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
Mark I. Rees et al.
NATURE GENETICS (2006)
Mutations in NHLRC1 cause progressive myoclonus epilepsy
EM Chan et al.
NATURE GENETICS (2003)
Missense mutations in the regulatory domain of PKCγ:: A new mechanism for dominant nonepisodic cerebellar ataxia
DH Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup
JK Park et al.
PEDIATRIC RESEARCH (2003)
Association between conformational mutations in neuroserpin and onset and severity of dementia
RL Davis et al.
LANCET (2002)
Mutations in TITF-1 are associated with benign hereditary chorea
GJ Breedveld et al.
HUMAN MOLECULAR GENETICS (2002)
Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)
MI Rees et al.
HUMAN MOLECULAR GENETICS (2002)
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
HL Gao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
NATURE GENETICS (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)