1 |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
53
62
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Rotthier A...Timmerman V
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19651702 |
2009 |
2 |
Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis.
53
62
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Indo Y
|
19201660 |
2009 |
3 |
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
53
62
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Kilic SS...Timmerman V
|
19089473 |
2009 |
4 |
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
53
62
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Gunadi...Nishio H
|
19127222 |
2009 |
5 |
Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.
53
62
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Suriu C...Falik-Zaccai TC
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19250380 |
2009 |
6 |
Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor.
53
62
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Beigelman A...Levy R
|
18955016 |
2009 |
7 |
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
53
62
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Huehne K...Rautenstrauss B
|
18077166 |
2008 |
8 |
Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis.
53
62
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Schreiber R...Hershkovitz E
|
16279365 |
2005 |
9 |
Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them.
53
62
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Barone R...Pavone P
|
16138253 |
2005 |
10 |
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study.
53
62
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Minde J...Solders G
|
15468048 |
2004 |
11 |
A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA).
53
62
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Melamed I...Gelfand EW
|
15163901 |
2004 |
12 |
Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes.
53
62
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Sato Y...Eguchi M
|
15114061 |
2004 |
13 |
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.
53
62
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Rozentsveig V...Gurman GM
|
15078381 |
2004 |
14 |
Neurotrophic factors and their receptors in human sensory neuropathies.
53
62
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Anand P
|
14699981 |
2004 |
15 |
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
53
62
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Bonkowsky JL...Swoboda KJ
|
12949319 |
2003 |
16 |
RET and NTRK1 proto-oncogenes in human diseases.
53
62
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Alberti L...Pierotti MA
|
12652644 |
2003 |
17 |
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
53
62
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Indo Y
|
11748840 |
2001 |
18 |
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis.
53
62
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Shorer Z...Levy J
|
11744315 |
2001 |
19 |
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
53
62
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Indo Y...Matsuda I
|
11668614 |
2001 |
20 |
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
53
62
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Mardy S...Indo Y
|
11159935 |
2001 |
21 |
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
53
62
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Bodzioch M...Schmitz G
|
11139246 |
2001 |
22 |
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
53
62
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Miura Y...Indo Y
|
11071380 |
2000 |
23 |
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
53
62
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Miura Y...Indo Y
|
10982191 |
2000 |
24 |
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.
53
62
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Greco A...Pierotti MA
|
10567924 |
2000 |
25 |
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
53
62
|
Mardy S...Indo Y
|
10330344 |
1999 |
26 |
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
53
62
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Yotsumoto S...Kanzaki T
|
10233776 |
1999 |
27 |
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
53
62
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Greco A...Pierotti MA
|
10090906 |
1999 |
28 |
Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.
53
62
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Indo Y...Matsuda I
|
9290260 |
1997 |
29 |
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
53
62
|
Indo Y...Matsuda I
|
8696348 |
1996 |
30 |
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
53
62
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Yamamoto K...Mano T
|
8726095 |
1996 |
31 |
Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring.
62
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Umer M...Kalra DK
|
36202174 |
2023 |
32 |
Polycystic kidney disease complicates renal pathology in a family with Fabry disease.
62
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Johar L...Kimonis V
|
36406818 |
2022 |
33 |
Analysis of the efficacy of the da Vinci robot in surgery for posterior mediastinal neurogenic tumors.
62
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Hong Z...Gou Y
|
36474200 |
2022 |
34 |
Chronic reduction of store operated Ca2+ entry is viable therapeutically but is associated with cardiovascular complications.
62
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Yu F...Machaca K
|
36181482 |
2022 |
35 |
Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy.
62
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Huryn LA...Kodati S
|
36332842 |
2022 |
36 |
Impact of the COVID-19 pandemic on families of patients with congenital insensitivity to pain with anhidrosis.
62
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Kubota M...Haga N
|
36371639 |
2022 |
37 |
Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.
62
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Almutairi MM...Tabassum S
|
36475157 |
2022 |
38 |
A Boy Who Knows No Pain: Anaesthetic Management of Congenital Insensitivity to Pain With Anhidrosis.
62
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Paul M...S J
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36447712 |
2022 |
39 |
Cross-sectional study of cholinergic urticaria subtypes and bronchial hyperresponsiveness.
62
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Katsurada N...Kobayashi K
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36302805 |
2022 |
40 |
Focal hypohidrosis in lesional skin in a probable case of confluent and reticulated papillomatosis: A case report with insight into the pathomechanism of recurrence.
62
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Shimoda-Komatsu Y...Ohyama M
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36261762 |
2022 |
41 |
Less Typical Courses of Rhodococcus equi Infections in Foals.
62
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Rakowska A...Witkowski L
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36356082 |
2022 |
42 |
Clinicopathological digital image analyses before and after thermal stimulation subdivide acquired idiopathic generalized anhidrosis into inflammatory and non-inflammatory type.
62
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Shimoda-Komatsu Y...Ohyama M
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36244887 |
2022 |
43 |
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
62
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Kozycki CT...Undiagnosed Diseases Network
|
35868845 |
2022 |
44 |
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.
62
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Obtel N...Chaussain C
|
35902997 |
2022 |
45 |
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
62
|
Yagi S...Shimomura Y
|
36258277 |
2022 |
46 |
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.
62
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Sewerin S...Halbritter J
|
35873018 |
2022 |
47 |
Central nervous system aspergillosis misdiagnosed as Toxoplasma gondii encephalitis in a patient with AIDS: a case report.
62
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Yang HH...Liu M
|
36076296 |
2022 |
48 |
Cholinergic Urticaria: Subtype Classification and Clinical Approach.
62
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Fukunaga A...Washio K
|
36107396 |
2022 |
49 |
Delayed Horner's Syndrome After Multiple Penetrating Stab Injury of the Neck.
62
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Ryu S...Park JJ
|
36053894 |
2022 |
50 |
Horner's Syndrome as a Complication of Ultrasound-Guided Central Cannulation: A Case Report.
62
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Silva L...Rocha T
|
36204040 |
2022 |