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。Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis
Sara Leddy et al.
NEUROIMAGE-CLINICAL (2021)
Comparison of Automated Acoustic Methods for Oral Diadochokinesis Assessment in Amyotrophic Lateral Sclerosis
Michal Novotny et al.
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH (2020)
Maximum Speech Performance and Executive Control in Young Adult Speakers
Chen Shen et al.
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH (2020)
Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1
Costanza Simoncini et al.
FRONTIERS IN NEUROLOGY (2020)
Automated Acoustic Analysis of Oral Diadochokinesis to Assess Bulbar Motor Involvement in Amyotrophic Lateral Sclerosis
Panying Rong
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH (2020)
Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities
Kuang-Yung Lee et al.
FRONTIERS IN NEUROANATOMY (2019)
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort
Sarah A. Cumming et al.
NEUROLOGY (2019)
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Emmanuelle Lagrue et al.
NEUROLOGY (2019)
Deposition of phosphorylated amyloid- in brains of aged nonhuman primates and canines
Yuri Mizuno et al.
BRAIN PATHOLOGY (2018)
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy
Kiera N. Berggren et al.
MUSCLE & NERVE (2018)
Hearing impairment in patients with myotonic dystrophy type 2
Judith van Vliet et al.
NEUROLOGY (2018)
Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1
Lotta Sjogreen et al.
INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS (2018)
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1
Jin-Sung Park et al.
SCIENTIFIC REPORTS (2018)
SCN4A as modifier gene in patients with myotonic dystrophy type 2
Anna Binda et al.
SCIENTIFIC REPORTS (2018)
Current Progress in CNS Imaging of Myotonic Dystrophy
Martina Minnerop et al.
FRONTIERS IN NEUROLOGY (2018)
Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2
Stojan Peric et al.
NEUROLOGICAL SCIENCES (2017)
Brain imaging in myotonic dystrophy type 1 A systematic review
Kees Okkersen et al.
NEUROLOGY (2017)
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study
Benjamin Gallais et al.
NEUROMUSCULAR DISORDERS (2017)
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2
Tao Zu et al.
NEURON (2017)
In myotonic dystrophy type 1 reduced FDG-uptake on FDG-PET is most severe in Brodmann area 8
Dimitri Renard et al.
BMC NEUROLOGY (2016)
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1
Stefano Zanigni et al.
NEUROIMAGE-CLINICAL (2016)
Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study
Renata Conforti et al.
NEURORADIOLOGY JOURNAL (2016)
Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness
Christiane Schneider-Gold et al.
PLOS ONE (2015)
Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1
Jeffrey R. Wozniak et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient
Charles D. Kassardjian et al.
NEUROGENETICS (2014)
Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage
Francesca Caso et al.
PLOS ONE (2014)
Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice
Michael G. Poulos et al.
HUMAN MOLECULAR GENETICS (2013)
RNA Interference Targeting CUG Repeats in a Mouse Model of Myotonic Dystrophy
Krzysztof Sobczak et al.
MOLECULAR THERAPY (2013)
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
Rosanna Cardani et al.
JOURNAL OF NEUROLOGY (2012)
Cerebral and muscle MRI abnormalities in myotonic dystrophy
Daniel T. Franc et al.
NEUROMUSCULAR DISORDERS (2012)
Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
Konstantinos Charizanis et al.
NEURON (2012)
Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain
Koichi Suenaga et al.
PLOS ONE (2012)
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
Martina Minnerop et al.
BRAIN (2011)
Non-ATG-initiated translation directed by microsatellite expansions
Tao Zu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1
Lotta Sjogreen et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2010)
Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
Vincenzo Romeo et al.
JOURNAL OF NEUROLOGY (2010)
A conserved motif controls nuclear localization of Drosophila Muscleblind
Juan M. Fernandez-Costa et al.
MOLECULES AND CELLS (2010)
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2
Y. G. Weber et al.
NEUROLOGY (2010)
The Motor Somatotopy of Speech Perception
Alessandro D'Ausillo et al.
CURRENT BIOLOGY (2009)
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms
Anne-Berit Ekstrom et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2009)
Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period
Bernard Echenne et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2
Martina Minnerop et al.
JOURNAL OF NEUROLOGY (2008)
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
Tiina Suominen et al.
JOURNAL OF NEUROLOGY (2008)
Cognitive impairment in myotonic dystrophy type 1 (DM1)
Anna Modoni et al.
JOURNAL OF NEUROLOGY (2008)
Right-hemisphere auditory cortex is dominant for coding syllable patterns in speech
Daniel A. Abrams et al.
JOURNAL OF NEUROSCIENCE (2008)
Opinion - The cortical organization of speech processing
Gregory Hickok et al.
NATURE REVIEWS NEUROSCIENCE (2007)
Warming up improves speech production in patients with adult onset myotonic dystrophy
B. J. M. de Swart et al.
JOURNAL OF COMMUNICATION DISORDERS (2007)
Relationship between diffusion tensor imaging and brain morphology in patients with myotonic dystrophy
Miho Ota et al.
NEUROSCIENCE LETTERS (2006)
Interaction of musleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing
Sharan Paul et al.
EMBO JOURNAL (2006)
Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1
O Leroy et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism
V Sansone et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease
CA Maurage et al.
NEUROLOGY (2005)
Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy
BJM de Swart et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Muscleblind proteins regulate alternative splicing
TH Ho et al.
EMBO JOURNAL (2004)
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
H Jiang et al.
HUMAN MOLECULAR GENETICS (2004)
Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2
C Kornblum et al.
JOURNAL OF NEUROLOGY (2004)
A muscleblind knockout model for myotonic dystrophy
RN Kanadia et al.
SCIENCE (2003)
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
M Fardaei et al.
HUMAN MOLECULAR GENETICS (2002)
Structure and function of auditory cortex: music and speech
RJ Zatorre et al.
TRENDS IN COGNITIVE SCIENCES (2002)
Task-related factors in oral motor control: Speech and oral diadochokinesis in dysarthria and apraxia of speech
W Ziegler
BRAIN AND LANGUAGE (2002)
Spectral and temporal processing in human auditory cortex
RJ Zatorre et al.
CEREBRAL CORTEX (2001)
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
N Sergeant et al.
HUMAN MOLECULAR GENETICS (2001)
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
CL Liquori et al.
SCIENCE (2001)
Semantic memory and the brain: structure and processes
A Martin et al.
CURRENT OPINION IN NEUROBIOLOGY (2001)
Human temporal lobe activation by speech and nonspeech sounds
JR Binder et al.
CEREBRAL CORTEX (2000)
Voice-selective areas in human auditory cortex
P Belin et al.
NATURE (2000)
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
JW Miller et al.
EMBO JOURNAL (2000)