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List of works by Adriano Jiménez-Escrig

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

scientific article

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

scientific article published on 24 June 2017

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

scientific article published on 01 February 2011

A short neuropsychologic and cognitive evaluation of frontotemporal dementia.

scientific article published on 4 December 2008

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

scientific article published on 01 May 1996

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

scientific article

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

scientific article published in April 2012

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

scientific article published on 04 June 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.

scientific article published in January 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

scientific article

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

scientific article published on 01 October 1992

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

scientific article published on 01 September 1994

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

scientific article published on 9 December 2016

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

scientific article published on 01 January 2012

Loss of taste and carbamazepine

scientific article published on 01 November 1994

Molecular biology and genetics of Alzheimer's disease

scientific article published on 01 November 1995

Neurophysiological study in cerebrotendinous xanthomatosis

scientific article published on 01 April 2011

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

scientific article

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

scientific article

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

scientific article published in October 2004

Oculo-auricular phenomenon secondary to vestibular dysfunction

scientific article published on 01 November 2002

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

scientific article published on 18 February 2015

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

scientific article published on 13 October 2018

Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy ⬇️

scientific article published on May 31, 2013

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

scientific article

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

scientific article published on 01 September 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.

scientific article published in November 2007

Transthyretin TYR77 familial amyloid polyneuropathy: A clinicopathological study of a large kindred ⬇️

scientific article published on November 1, 1998

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

scientific article published in December 2007

[Clinical variability and diagnostic controversies in CADASIL]

scientific article published on 01 April 2007

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

scientific article published on 22 February 2011

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