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Lista de obras de Adriano Jiménez-Escrig

A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes

artículo científico publicado en 2005

A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family

artículo científico publicado en 2017

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions

artículo científico publicado en 2011

A short neuropsychologic and cognitive evaluation of frontotemporal dementia.

artículo científico publicado en 2008

AIDS dementia complex: incidence, clinical profile and impact of zidovudine treatment*

artículo científico publicado en 1996

Amusia as an early manifestation of frontotemporal dementia caused by a novel progranulin mutation.

artículo científico publicado en 2010

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

artículo científico publicado en 2012

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

artículo científico publicado en 2011

Clinical and genetical study of a familial form of REM sleep behavior disorder

scientific article published on 04 October 2018

Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

artículo científico publicado en 2010

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis

scientific article published on 01 October 2000

Effects of intravenous administration of human umbilical cord blood stem cells in 3-acetylpyridine-lesioned rats

artículo científico publicado en 2012

Histocompatibility class I and II antigens in extensive kindred with Sneddon's syndrome and related hypercoagulation disorders

scientific article published on 16 November 2006

Isolated continuous rhythmic lingual myoclonus

artículo científico publicado en 1992

Isolated palsy of the third nerve nuclear complex caused by cerebral toxoplasmosis

artículo científico publicado en 1994

Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice.

artículo científico publicado en 2016

Liver growth factor promotes the survival of grafted neural stem cells in a rat model of Parkinson's disease

artículo científico publicado en 2012

Loss of taste and carbamazepine

artículo científico publicado en 1994

Molecular biology and genetics of Alzheimer's disease

artículo científico publicado en 1995

Neurophysiological study in cerebrotendinous xanthomatosis

artículo científico publicado en 2011

Neuroprotective activity of peripherally administered liver growth factor in a rat model of Parkinson's disease

artículo científico publicado en 2013

Neuroprotective role of liver growth factor "LGF" in an experimental model of cerebellar ataxia

artículo científico publicado en 2014

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

artículo científico publicado en 2004

Oculo-auricular phenomenon secondary to vestibular dysfunction

artículo científico publicado en 2002

Optimal excitation and emission wavelengths to analyze amino acids and optimize neurotransmitters quantification using precolumn OPA-derivatization by HPLC.

artículo científico publicado en 2015

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

artículo científico publicado en 2018

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis

artículo científico publicado en 2012

RNA-Seq blood transcriptome profiling in familial attention deficit and hyperactivity disorder (ADHD)

scientific article published on 12 October 2018

Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy

artículo científico publicado en 2018

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

scientific article published on 29 October 2019

The clinical correlates of IgG antiganglioside antibodies

scientific article published on 01 December 1995

Translating genetic findings into therapy in Parkinson disease.

artículo científico publicado en 2007

Variability of age at onset in siblings with familial Alzheimer disease.

artículo científico publicado en 2007

[Clinical variability and diagnostic controversies in CADASIL]

artículo científico publicado en 2007

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]

artículo científico publicado en 2011

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