Search filters

List of works by Pedro Gonzalez-Alegre

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

scientific article published on 19 November 2020

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

scientific article published on 29 August 2020

A functional role for TorsinA in herpes simplex virus 1 nuclear egress

scientific article published on 20 July 2011

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

scientific article

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2

scientific article

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

scientific article published in March 2004

Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease

scientific article published on 23 September 2015

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

scientific article published on 16 September 2015

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center

scientific article published on 01 January 2019

Animal models for drug discovery in dystonia ⬇️

scientific article published on January 1, 2008

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

scientific article published on 01 May 2020

Biallelic TOR1A variants in an infant with severe arthrogryposis

scientific article published on 9 May 2017

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy

scientific article

Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic mice.

scientific article

Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature

scientific article published on March 2006

Clinical predictors of driving status in Huntington's disease

scientific article published on 28 June 2012

Clinical, Etiological, and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

scientific article

Cognitive dysfunctions in middle-aged type 2 diabetic patients and neuroimaging correlations: a cross-sectional study

scientific article published on January 2014

Contrast Acuity and the King-Devick Test in Huntington's Disease

scientific article published on 25 November 2019

DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition

scientific article

Delineation of the motor disorder of Lesch-Nyhan disease

scientific article

Descriptions of cervical dystonia by Sir Charles Bell

scientific article published on February 2010

Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.

scientific article published on October 2016

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

scientific article published on 20 October 2014

Exploring the influence of torsinA expression on protein quality control

scientific article published on 16 December 2010

Exploring the link between dystonia genes and idiopathic scoliosis

scientific article

FBG1 is a promiscuous ubiquitin ligase that sequesters APC2 and causes S-phase arrest.

scientific article

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018

High prevalence of reported tremor in Klinefelter syndrome

scientific article

Huntington's disease in children

scientific article published on January 1, 2013

Idiopathic brachial neuritis.

scientific article published on January 2002

Isolated high-frequency jaw tremor relieved by botulinum toxin injections

scientific article

Lentivirus-mediated RNA interference in mammalian neurons

scientific article published in January 2008

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Moyamoya‐induced paroxysmal dyskinesia ⬇️

scientific article published on September 1, 2003

PPP2R5D genetic mutations and early-onset parkinsonism

scientific article published on 23 October 2020

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

scientific article

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

scientific article published on 26 April 2019

RNA interference in neuroscience: progress and challenges

scientific article

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1.

scientific article published on 30 September 2016

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

Residency training: a failed lumbar puncture is more about obesity than lack of ability

scientific article

Sex-specific effects of the Huntington gene on normal neurodevelopment

scientific article published in January 2017

Silencing neurodegenerative disease: bringing RNA interference to the clinic

scientific article

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties ⬇️

scientific article published on October 27, 2010

Substance abuse may be a risk factor for earlier onset of Huntington disease.

scientific article

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.

scientific article published on 19 May 2017

Technology insight: therapeutic RNA interference--how far from the neurology clinic?

scientific article published on July 2007

The inherited dystonias

scientific article published on April 2007

Therapeutic RNA interference for neurodegenerative diseases: From promise to progress

scientific article published on 25 January 2007

Towards precision medicine

scientific article published on 01 January 2018

Two cases of pregnancy in Parkinson's disease

scientific article

Paulina is supported by:

About Paulina

Help