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Prof. Dr. Francesc  Palau Martinez, Ph.D. working place, University Pediatric Hospital Sant Joan de Deu Barcelona
Prof. Dr. Francesc  Palau Martinez, Ph.D.
Excellent
AiroScore
9.90

Prof. Dr. Francesc Palau Martinez, Ph.D.

rare pediatric diseases, genetics
rare pediatric diseases, genetics
User ScoreExperienceRatingPrice RangePublicationsOnline Consultations
97%42 years9.9/10$$$$286Yes

Overview

Country, City
Spain, Barcelona
Health facility
University Pediatric Hospital Sant Joan de Deu Barcelona
Medical unit
Department of rare pediatric diseases, genetics

About the doctor

Prof. Dr. Francesc Palau Martinez, Ph. D. , is an experienced doctor specializing in rare pediatric diseases and genetics. With over 40 years of experience, he is the Director of the Pediatric Institute for Rare Diseases and Head of the Genetics Service at the Hospital Sant Joan de Deu in Barcelona, Spain. Prof. Dr. Martinez has an impressive educational background, including a Bachelor of Medicine and Surgery, a Doctor of Medicine degree, and Human Genetics and Clinical Genetics and Dysmorphology accreditations. He is also an Associate Professor of Pediatrics at the University of Barcelona. With 286 scientific publications, Prof. Dr. Martinez has made significant contributions to the field. His research focuses on mitochondrial diseases, cerebellar ataxias, and genetic approaches to rare diseases. He has also been involved in collaborative initiatives and national research networks for rare diseases. Prof. Dr. Martinez's expertise and dedication to his field make him a highly respected and sought-after doctor. He is known for his thorough diagnostic strategies and commitment to improving the understanding and treatment of rare pediatric diseases.

Skills & Expertise

ataxia
gene
genetics
neuropathy
friedreichs ataxia
dystrophy
frataxin
cerebellar
chromosome
celiac
axonal charcotmarietooth
children
deficiency
neuropathies
hereditary neuropathy
palsies
epilepsy
pressure palsies
cerebellar ataxias
calcium
neurons
microbiota
cmt1a
neuromuscular
infants
muscle
gdap1 gene
metabolism
pediatrics
gene ankk1
gdap1related charcotmarietooth
myotonic dystrophy
vocal cord
muscular dystrophy
intestinal microbiota
glycolytic metabolism
gdap1associated neuropathy
pmp22 gene
11q23 abnormalities
congenital myopathy
frataxin deficiency
axonal dystrophy
muscle fibers
structural epilepsy
gria3 gene
pediatric genetics
epileptic encephalopathy
coenzyme q10 deficiency
acute nonlymphocytic leukemia
mimicking structural epilepsy

Resume

CV (Curriculum Vitae)

Education
  • 1982 Bachelor of Medicine and Surgery, University of Valencia, MD
  • 1988 Specialist in Pediatrics, Children's Hospital, Hospital Universitari La Fe, Valencia
  • 1989 Doctor of Medicine (Ph.D.), University of Valencia
  • 2000 Accreditation in Human Genetics, Spanish Association of Human Genetics
  • 2000 Accreditation in Clinical Genetics and Dysmorphology, Spanish Association of Pediatrics
Experience
  • 2015 Associate Professor of Pediatrics, Faculty of Medicine, University of Barcelona, ​​Spain
  • Director of the Pediatric Institute for Rare Diseases and Head of the Genetics Service at the Hospital Sant Joan de Deu, Spain
Awards & Memberships
  • Member, Scientific Advisory Committee of Telethon Italia and of the Fondation de Maladies Rares of France
  • Reina Sofía Award for Impairment Prevention

Languages

English flag
English
Spanish flag
Spanish
Catalan flag
Catalan

Publications

Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response

July, 2023

Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.

July, 2023

Rare Disease Research

June, 2023

Location

Pg. de Sant Joan de Déu, 2, 08950 Barcelona, Spain

FAQ

What is the specialization of Prof. Dr. Francesc Palau Martinez, Ph.D.?

The primary specialization of the doctor is rare pediatric diseases, genetics.

What is the experience of the specialist?

Prof. Dr. Francesc Palau Martinez, Ph.D. has been practicing for more than 42 years.

What is the rating of the doctor?

What topics does Prof. Dr. Francesc Palau Martinez, Ph.D. expert at?

The doctor has excellent knowledge in ataxia, gene, genetics, neuropathy, friedreichs ataxia.

Is the specialist involved in the research?

Does the specialist offer online consultations?

Yes, Prof. Dr. Francesc Palau Martinez, Ph.D. performs virtual appointments and offers a second medical opinion service.

Prof. Dr. Francesc  Palau Martinez, Ph.D.
Prof. Dr. Francesc Palau Martinez, Ph.D.

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