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Best matches for familial dysautonomia:

Animal and cellular models of familial dysautonomia. Lefcort F et al. Clin Auton Res. (2017)

Familial dysautonomia: History, genotype, phenotype and translational research. Norcliffe-Kaufmann L et al. Prog Neurobiol. (2017)

Caring for adolescents with familial dysautonomia. Keegan RD et al. Nursing. (2017)

Search results

Items: 1 to 20 of 1410

1.

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.

Won E, Palma JA, Kaufmann H, Milla SS, Cohen B, Norcliffe-Kaufmann L, Babb JS, Lui YW.

Clin Auton Res. 2019 Feb 19. doi: 10.1007/s10286-019-00593-0. [Epub ahead of print]

PMID:
30783821
2.

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Kaserman JE, Wilson AA.

Chronic Obstr Pulm Dis. 2018 Sep 15;5(4):258-266. doi: 10.15326/jcopdf.5.4.2017.0179.

3.

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR).

Vita GL, Stancanelli C, Gentile L, Barcellona C, Russo M, Di Bella G, Vita G, Mazzeo A.

Neuromuscul Disord. 2018 Nov 14. pii: S0960-8966(18)31106-4. doi: 10.1016/j.nmd.2018.11.002. [Epub ahead of print]

PMID:
30718023
4.

Autonomic Neurons with Sympathetic Character Derived From Human Pluripotent Stem Cells.

Saito-Diaz K, Wu HF, Zeltner N.

Curr Protoc Stem Cell Biol. 2019 Jan 31:e78. doi: 10.1002/cpsc.78. [Epub ahead of print]

PMID:
30702809
5.

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.

Cazzato D, Dalla Bella E, Saveri P, Taroni F, Marucci G, Lauria G.

Neurol Sci. 2019 Jan 26. doi: 10.1007/s10072-019-3716-z. [Epub ahead of print]

PMID:
30685801
6.

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia.

Kaufmann H, Norcliffe-Kaufmann L, Palma JA.

Clin Auton Res. 2019 Jan 12. doi: 10.1007/s10286-019-00590-3. [Epub ahead of print] No abstract available.

PMID:
30637592
7.

Induced pluripotent stem cells for disease modeling, cell therapy and drug discovery in genetic autonomic disorders: a review.

Saito-Diaz K, Zeltner N.

Clin Auton Res. 2019 Jan 10. doi: 10.1007/s10286-018-00587-4. [Epub ahead of print] Review.

PMID:
30631982
8.
9.

Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study.

Bar Aluma BE, Norcliffe-Kaufmann L, Sarouk I, Dagan A, Ashkenazi M, Bezalel Y, Vilozni D, Lahad A, Efrati O.

J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):422-427. doi: 10.1097/MPG.0000000000002180.

PMID:
30334929
10.

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.

Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA.

SLAS Discov. 2019 Jan;24(1):57-67. doi: 10.1177/2472555218792264. Epub 2018 Aug 7.

PMID:
30085848
11.

Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia.

Scanzera AC, Shorter E.

Optom Vis Sci. 2018 Aug;95(8):678-681. doi: 10.1097/OPX.0000000000001255.

PMID:
30063663
12.

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

Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H.

Respir Med. 2018 Aug;141:37-46. doi: 10.1016/j.rmed.2018.06.017. Epub 2018 Jun 21. Review.

13.
14.

Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.

Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, Arnulf B, Adams D.

Neurology. 2018 Jul 10;91(2):e143-e152. doi: 10.1212/WNL.0000000000005777. Epub 2018 Jun 15.

PMID:
29907605
15.

Orthostatic hypotension: does the heart rate matter? And other updates on recent autonomic research.

Miglis MG, Muppidi S.

Clin Auton Res. 2018 Jun;28(3):269-271. doi: 10.1007/s10286-018-0532-0. Epub 2018 May 19. No abstract available.

PMID:
29779066
16.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.

Bruun GH, Bang JMV, Christensen LL, Brøner S, Petersen USS, Guerra B, Grønning AGB, Doktor TK, Andresen BS.

Nucleic Acids Res. 2018 Sep 6;46(15):7938-7952. doi: 10.1093/nar/gky395.

17.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.

18.

Characteristics of ataxic gait in familial dysautonomia patients.

Portnoy S, Maayan C, Tsenter J, Ofran Y, Goldman V, Hiller N, Karniel N, Schwartz I.

PLoS One. 2018 Apr 26;13(4):e0196599. doi: 10.1371/journal.pone.0196599. eCollection 2018.

19.

Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.

Singh K, Palma JA, Kaufmann H, Tkachenko N, Norcliffe-Kaufmann L, Spalink C, Kazachkov M, Kothare SV.

Sleep Med. 2018 May;45:33-38. doi: 10.1016/j.sleep.2017.12.013. Epub 2018 Feb 7.

20.

Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.

Sinha R, Kim YJ, Nomakuchi T, Sahashi K, Hua Y, Rigo F, Bennett CF, Krainer AR.

Nucleic Acids Res. 2018 Jun 1;46(10):4833-4844. doi: 10.1093/nar/gky249.

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