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Expert Opinion on Pharmacotherapy Volume 15, 2014 - Issue 18
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Current treatments in familial dysautonomia

Jose-Alberto PalmaNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
,
Lucy Norcliffe-KaufmannNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
,
Cristina Fuente-MoraNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
,
Leila PercivalNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
,
Carlos Mendoza-SantiestebanNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
&
Horacio KaufmannNew York University School of Medicine, Dysautonomia Center, Department of Neurology, 530 First Avenue, Suite 9Q New York, NY 10016, USA+1 212 263 7225; [email protected]
, MD
Pages 2653-2671 | Published online: 17 Oct 2014

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Berish Y Rubin & Sylvia L Anderson. (2017) IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. The Application of Clinical Genetics 10, pages 95-103.
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Articles from other publishers (56)

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Danial Roshandel, Farbod Semnani, Amirmasoud Rayati Damavandi, Ali Masoudi, Alireza Baradaran-Rafii, Stephanie L. Watson, William H. Morgan & Samuel McLenachan. (2023) Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies. The Ocular Surface 29, pages 150-165.
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Alejandra González-Duarte, Maria Cotrina-Vidal, Horacio Kaufmann & Lucy Norcliffe-Kaufmann. (2023) Familial dysautonomia. Clinical Autonomic Research 33:3, pages 269-280.
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Vaughan G. Macefield, Lyndon J. Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma & Horacio Kaufmann. (2023) Sensorimotor control in the congenital absence of functional muscle spindles. Experimental Physiology.
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Stephanann M. Costello, Alexandra M. Cheney, Annie Waldum, Brian Tripet, Maria Cotrina-Vidal, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Frances Lefcort & Valérie Copié. (2023) A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations. Metabolites 13:3, pages 433.
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Alexandra M. Cheney, Stephanann M. Costello, Nicholas V. Pinkham, Annie Waldum, Susan C. Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J. Kominsky, Heather M. Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T. Peach, Brian Bothner, Frances Lefcort, Valérie Copié & Seth T. Walk. (2023) Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia. Nature Communications 14:1.
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David S. Younger. 2023. Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders. Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders 55 102 .
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Ananta Subedi, Rakshya Sharma & Ishan Lalani. (2022) Experience With Dexmedetomidine Use in the Treatment of Dysautonomic Crisis in Familial Dysautonomia: An Off-Label Use. Cureus.
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Carrie E Leonard, Jolie Quiros, Frances Lefcort & Lisa A Taneyhill. (2022) Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia. eLife 11.
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Annette Lischka, Petra Lassuthova, Arman Çakar, Christopher J. Record, Jonas Van Lent, Jonathan Baets, Maike F. Dohrn, Jan Senderek, Angelika Lampert, David L. Bennett, John N. Wood, Vincent Timmerman, Thorsten Hornemann, Michaela Auer-Grumbach, Yesim Parman, Christian A. Hübner, Miriam Elbracht, Katja Eggermann, C. Geoffrey Woods, James J. Cox, Mary M. Reilly & Ingo Kurth. (2022) Genetic pain loss disorders. Nature Reviews Disease Primers 8:1.
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Zariah Tolman, Marta Chaverra, Lynn George & Frances Lefcort. (2022) Elp1 is required for development of visceral sensory peripheral and central circuitry . Disease Models & Mechanisms 15:5.
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Heidi Ulrichs, Hsueh Fu Wu & Nadja Zeltner. 2022. iPSCs - State of the Science. iPSCs - State of the Science 167 196 .
Massimo Martinelli & Annamaria Staiano. 2022. Pediatric Neurogastroenterology. Pediatric Neurogastroenterology 371 380 .
G. Vahidi, H. Flook, V. Sherk, M. Mergy, F. Lefcort & C.M. Heveran. (2021) Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia. Osteoporosis International 32:11, pages 2335-2346.
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Sarebanha Melodie, Valente Laura, Kalra Minnea, Joseph Layon A & Crimi Ettore. (2021) Case report: Perioperative management of a patient with familial dysautonomia. Journal of Clinical Intensive Care and Medicine 6:2, pages 029-032.
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Jose-Alberto Palma & Horacio Kaufmann. 2021. Autonomic Nervous System and Sleep. Autonomic Nervous System and Sleep 301 306 .
Subhan Iqbal. 2005. Radiopaedia.org. Radiopaedia.org.
Sarah Jacot-Descombes, Neha Keshav, Carla Micaela Santos Brosch, Bridget Wicinski, Tahia Warda, Lucy Norcliffe-Kaufmann, Horacio Kaufmann, Merina Varghese & Patrick R Hof. (2020) Von Economo Neuron Pathology in Familial Dysautonomia: Quantitative Assessment and Possible Implications. Journal of Neuropathology & Experimental Neurology 79:10, pages 1072-1083.
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Frances Lefcort. (2020) Development of the Autonomic Nervous System: Clinical Implications. Seminars in Neurology 40:05, pages 473-484.
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Lucy Norcliffe-Kaufmann, Patricio Millar Vernetti, Jose-Alberto Palma, Bhumika J. Balgobin & Horacio Kaufmann. (2020) Afferent Baroreflex Dysfunction: Decreased or Excessive Signaling Results in Distinct Phenotypes. Seminars in Neurology 40:05, pages 540-549.
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Lucy Norcliffe-Kaufmann, Jose-Alberto PalmaJose MartinezHoracio Kaufmann. (2020) Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia. Hypertension 76:3, pages 724-731.
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Lyndon Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann & Vaughan G. Macefield. (2020) Elbow proprioception is normal in patients with a congenital absence of functional muscle spindles. The Journal of Physiology 598:16, pages 3521-3529.
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Horacio Kaufmann, Lucy Norcliffe-KaufmannJose-Alberto Palma. (2020) Baroreflex Dysfunction. New England Journal of Medicine 382:2, pages 163-178.
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Lucy Norcliffe-Kaufmann. (2019) The Vagus and Glossopharyngeal Nerves in Two Autonomic Disorders. Journal of Clinical Neurophysiology 36:6, pages 443-451.
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Eugene Won, Jose-Alberto Palma, Horacio Kaufmann, Sarah S. Milla, Benjamin Cohen, Lucy Norcliffe-Kaufmann, James S. Babb & Yvonne W. Lui. (2019) Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. Clinical Autonomic Research 29:4, pages 469-473.
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Jose-Alberto Palma, Alex Gileles-Hillel, Lucy Norcliffe-Kaufmann & Horacio Kaufmann. (2019) Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. Autonomic Neuroscience 218, pages 10-15.
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Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory G. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis & Susan A. Slaugenhaupt. (2019) ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. The American Journal of Human Genetics 104:4, pages 638-650.
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Bat-El Bar Aluma, Lucy Norcliffe-KaufmannIfat Sarouk, Adi Dagan, Moshe Ashkenazi, Yael Bezalel, Daphna Vilozni, Avishay Lahad & Ori Efrati. (2019) Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. Journal of Pediatric Gastroenterology & Nutrition 68:3, pages 422-427.
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Monica Salani, Fabio Urbina, Anthony Brenner, Elisabetta Morini, Ranjit Shetty, C. Scott Gallagher, Emily A. Law, Sara Sunshine, Dylan J. Finneran, Graham Johnson, Lisa Minor & Susan A. Slaugenhaupt. (2019) Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. SLAS Discovery 24:1, pages 57-67.
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Ellen Merete Hagen. 2018. Neurorehabilitation Therapy and Therapeutics. Neurorehabilitation Therapy and Therapeutics 186 201 .
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Mikhail Kazachkov, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Bat-El Bar-Aluma, Christy L. Spalink, Erin P. Barnes, Nancy E. Amoroso, Stamatela M. Balou, Shay Bess, Arun Chopra, Rany Condos, Ori Efrati, Kathryn Fitzgerald, David Fridman, Ronald M. Goldenberg, Ayelet Goldhaber, David A. Kaufman, Sanjeev V. Kothare, Jeremiah Levine, Joseph Levy, Anthony S. Lubinsky, Channa Maayan, Libia C. Moy, Pedro J. Rivera, Alcibiades J. Rodriguez, Gil Sokol, Mark F. Sloane, Tina Tan & Horacio Kaufmann. (2018) Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respiratory Medicine 141, pages 37-46.
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Lior Goldberg, Bat-El Bar-Aluma, Alex Krauthammer, Ori Efrati & Yehonatan Sharabi. (2018) Ambulatory blood pressure profiles in familial dysautonomia. Clinical Autonomic Research 28:4, pages 385-390.
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Kanwaljit Singh, Jose-Alberto Palma, Horacio Kaufmann, Nataliya Tkachenko, Lucy Norcliffe-Kaufmann, Christy Spalink, Mikhail Kazachkov & Sanjeev V. Kothare. (2018) Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Medicine 45, pages 33-38.
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Sigal Portnoy, Channa Maayan, Jeanna Tsenter, Yonah Ofran, Vladimir Goldman, Nurit Hiller, Naama Karniel & Isabella Schwartz. (2018) Characteristics of ataxic gait in familial dysautonomia patients. PLOS ONE 13:4, pages e0196599.
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Ryuji Sakakibara. (2018) Cyclic vomiting syndrome: the nervous system has the guts. Clinical Autonomic Research 28:2, pages 167-169.
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Lucy Norcliffe-Kaufmann, Brahyan Galindo-Mendez, Ana-Lucia Garcia-Guarniz, Estibaliz Villarreal-Vitorica & Vera Novak. (2017) Transcranial Doppler in autonomic testing: standards and clinical applications. Clinical Autonomic Research 28:2, pages 187-202.
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Yumi Ueki, Veronika Shchepetkina & Frances Lefcort. (2018) Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia . Disease Models & Mechanisms.
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Alaeldin A. Darwich. 2018. Consults in Obstetric Anesthesiology. Consults in Obstetric Anesthesiology 219 221 .
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Miguel A Perez, Christy L Spalink & Horacio Kaufmann. (2017) Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case–Control Study. Sleep 40:8.
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Antonio Heras-Garvin. (2017) Basic research and model systems in familial dysautonomia: What do we know and what’s next?. Clinical Autonomic Research 27:4, pages 211-212.
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Christy L. Spalink, Erin Barnes, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann & Horacio Kaufmann. (2017) Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. Clinical Autonomic Research 27:4, pages 279-282.
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Cristina Fuente Mora, Jose-Alberto Palma, Horacio Kaufmann & Lucy Norcliffe-Kaufmann. (2016) Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia. Journal of Cerebral Blood Flow & Metabolism 37:7, pages 2414-2422.
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Lucy Norcliffe-Kaufmann, Susan A. Slaugenhaupt & Horacio Kaufmann. (2017) Familial dysautonomia: History, genotype, phenotype and translational research. Progress in Neurobiology 152, pages 131-148.
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Carlos E. Mendoza-Santiesteban, Jose-Alberto Palma, Thomas R. HedgesIIIIII, Nora V. Laver, Nada Farhat, Lucy Norcliffe-Kaufmann & Horacio Kaufmann. (2017) Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. Journal of Neuropathology & Experimental Neurology 76:3, pages 238-244.
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Gisela Chelimsky & Thomas Chelimsky. (2017) Unusual Structural Autonomic Disorders Presenting in Pediatrics. Pediatric Clinics of North America 64:1, pages 173-183.
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Ryan C. Dillon, Jose-Alberto Palma, Christy L. Spalink, Diana Altshuler, Lucy Norcliffe-Kaufmann, David Fridman, John Papadopoulos & Horacio Kaufmann. (2016) Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. Clinical Autonomic Research 27:1, pages 7-15.
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Shiran Naftelberg, Gil Ast & Eran Perlson. (2017) Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases. Neural Regeneration Research 12:4, pages 534.
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Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Cristina Fuente-Mora, Leila Percival, Christy L. Spalink & Horacio Kaufmann. 2017. Swaiman's Pediatric Neurology. Swaiman's Pediatric Neurology 1173 1183 .
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Yumi Ueki, Grisela Ramirez, Ernesto Salcedo, Maureen E. Stabio & Frances Lefcort. (2016) Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia . eneuro 3:5, pages ENEURO.0143-16.2016.
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Jose-alberto Palma, Ricardo Roda, Lucy Norcliffe-kaufmann & Horacio Kaufmann. (2015) Increased frequency of rhabdomyolysis in familial dysautonomia. Muscle & Nerve 52:5, pages 887-890.
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