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Nociception and pain in humans lacking a functional TRPV1 channel

The Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-17

2023

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Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Annals of neurology, 2012-04, Vol.71 (4), p.569-572

2012

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Retrograde tubing as a rescue treatment for megaoesophagus: a case report

BMJ open gastroenterology, 2024-03, Vol.11 (1), p.e001285

2024

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Characteristics of ataxic gait in familial dysautonomia patients

PloS one, 2018-04, Vol.13 (4), p.e0196599-e0196599

2018

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Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

PloS one, 2010-12, Vol.5 (12), p.e15884-e15884

2010

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Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

PloS one, 2015-10, Vol.10 (10), p.e0138807-e0138807

2015

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IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation

PloS one, 2014-04, Vol.9 (4), p.e94612-e94612

2014

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Neoplasia in Familial Dysautonomia: A 20-Year Review in a Young Patient Population

The Journal of pediatrics, 2009-12, Vol.155 (6), p.934-936

2009

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Dry Eye

The New England journal of medicine, 2018-09, Vol.379 (11), p.e19

2018

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Natural history of five children with surfactant protein C mutations and interstitial lung disease

Pediatric pulmonology, 2014-11, Vol.49 (11), p.1097-1105

2014

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Identification of the first non-Jewish mutation in familial Dysautonomia

American journal of medical genetics, 2003-05, Vol.118A (4), p.305-308

2003

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Uncommon side effects of common drugs in patients with familial dysautonomia

Pharmacoepidemiology and drug safety, 2022-02, Vol.31 (2), p.128-140

2022

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Dry Eye

The New England journal of medicine, 2018-09, Vol.379 (11), p.e19-e19

2018

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IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

Human molecular genetics, 2011-04, Vol.20 (8), p.1585-1594

2011

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Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia

Journal of clinical densitometry, 2018-04, Vol.21 (2), p.205-212

2018

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Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study

Journal of molecular neuroscience, 2016-07, Vol.59 (3), p.382-391

2016

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IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination

Human molecular genetics, 2007-09, Vol.16 (17), p.2097-2104

2007

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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

European journal of paediatric neurology, 2016-01, Vol.20 (1), p.69-79

2016

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Lack of migraine in headaches of familial dysautonomia patients

Journal of Neural Transmission, 2013-03, Vol.120 (3), p.399-402

2013

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Laughter Is Not Always Funny: Breath-Holding Spells in Familial Dysautonomia

Clinical pediatrics, 2015-02, Vol.54 (2), p.174-178

2015

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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

American journal of human genetics, 2001-03, Vol.68 (3), p.598-605

2001

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Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients

Autonomic neuroscience, 2014-02, Vol.180, p.59-65

2014

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Short-term Course and Outcome of Treatments of Pleural Empyema in Pediatric Patients

Chest, 2002-03, Vol.121 (3), p.836-840

2002

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Natural history of five children with surfactant protein C mutations and interstitial lung disease: SFTPC Mutations, Natural History & Pediatric ILD

Pediatric pulmonology, 2014-11, Vol.49 (11), p.1097-1105

2014

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Nociception and pain in humans lacking a functional TRPV1 channel

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Retrograde tubing as a rescue treatment for megaoesophagus: a case report

Characteristics of ataxic gait in familial dysautonomia patients

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation

Neoplasia in Familial Dysautonomia: A 20-Year Review in a Young Patient Population

Dry Eye

Natural history of five children with surfactant protein C mutations and interstitial lung disease

Identification of the first non-Jewish mutation in familial Dysautonomia

Uncommon side effects of common drugs in patients with familial dysautonomia

Dry Eye

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia

Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Lack of migraine in headaches of familial dysautonomia patients

Laughter Is Not Always Funny: Breath-Holding Spells in Familial Dysautonomia

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients

Short-term Course and Outcome of Treatments of Pleural Empyema in Pediatric Patients

Natural history of five children with surfactant protein C mutations and interstitial lung disease: SFTPC Mutations, Natural History & Pediatric ILD

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