Zobrazeno 1 - 10
of 307
pro vyhledávání: '"Horacio, Kaufmann"'
Autor:
Vaughan G. Macefield, Lyndon J. Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann
Publikováno v:
Experimental Physiology, Vol 109, Iss 1, Pp 27-34 (2024)
Abstract Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, lea
Externí odkaz:
https://doaj.org/article/3375a4a16cd24be5a407d03b8f674a64
Autor:
Hash Brown Taha, Simon Hornung, Suman Dutta, Leony Fenwick, Otmane Lahgui, Kathryn Howe, Nour Elabed, Irish del Rosario, Darice Y. Wong, Aline Duarte Folle, Daniela Markovic, Jose-Alberto Palma, Un Jung Kang, Roy N. Alcalay, Miriam Sklerov, Horacio Kaufmann, Brent L. Fogel, Jeff M. Bronstein, Beate Ritz, Gal Bitan
Publikováno v:
Translational Neurodegeneration, Vol 12, Iss 1, Pp 1-4 (2023)
Externí odkaz:
https://doaj.org/article/85fb98a9deb841f7a68e9dae119d15cf
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Familial dysautonomia is a rare genetic disease caused in part by neurodegeneration. Here, the authors show that the gut-metabolism axis is altered in both patients and transgenic mice and that disease pathology is ameliorated by controlling microbio
Externí odkaz:
https://doaj.org/article/5e2396870a5d4bfcb87f889c0da6953f
Autor:
Maria L Cotrina, Barr Morgenstein, Miguel Perez, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann
Publikováno v:
PLoS ONE, Vol 18, Iss 11, p e0293800 (2023)
BackgroundChildren with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the di
Externí odkaz:
https://doaj.org/article/06f9115279e44bbf9a4bbaa0fe709ceb
Autor:
Stephanann M. Costello, Alexandra M. Cheney, Annie Waldum, Brian Tripet, Maria Cotrina-Vidal, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Frances Lefcort, Valérie Copié
Publikováno v:
Metabolites, Vol 13, Iss 3, p 433 (2023)
Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contras
Externí odkaz:
https://doaj.org/article/11a137d9ed8447a9b8775f94c1799dc1
Autor:
Gregory Vurture, Benoit Peyronnet, Jose-Alberto Palma, Rachael D. Sussman, Dominique R. Malacarne, Andrew Feigin, Ricardo Palmerola, Nirit Rosenblum, Steven Frucht, Horacio Kaufmann, Victor W. Nitti, Benjamin M. Brucker
Publikováno v:
International Neurourology Journal, Vol 23, Iss 3, Pp 211-218 (2019)
Purpose To assess the urodynamic findings in patients with Parkinson disease (PD) with overactive bladder symptoms. Methods We performed a retrospective chart review of all PD patients who were seen in an outpatient clinic for lower urinary tract sym
Externí odkaz:
https://doaj.org/article/5b80d81f344b44f2a6445ecc5ae6f5a5
Autor:
Chethan Ramprasad, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Joseph Levy, Lea Ann Chen, Horacio Kaufmann
Publikováno v:
Clinical Autonomic Research. 33:87-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32eea7190510e600576851caf742d236
https://doi.org/10.1007/s10286-023-00925-1
https://doi.org/10.1007/s10286-023-00925-1
Publikováno v:
BMC Neurology, Vol 17, Iss 1, Pp 1-11 (2017)
Abstract Background Droxidopa, a prodrug of norepinephrine, was approved for treatment of neurogenic orthostatic hypotension (nOH) due to primary autonomic disorders based on 3 randomized double-blind studies. We performed safety and efficacy analyse
Externí odkaz:
https://doaj.org/article/389d485a1e0f48f69990f26dac5b9093
Autor:
Jose‐Alberto Palma, Florian Krismer, Wassilios G. Meissner, Mechteld Kuijpers, Patricio Millar‐Vernetti, Miguel A. Perez, Alessandra Fanciulli, Lucy Norcliffe‐Kaufmann, Pam Bower, Gregor K. Wenning, Horacio Kaufmann
Publikováno v:
Movement Disorders Clinical Practice. 9:967-971
The Global Multiple System Atrophy Registry (GLOMSAR) was established in 2013. It is an online patient-reported contact registry open and free that relies on self-reported diagnosis by the patient or caregiver.To report the demographics of patients e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57bbb46c06264a5a50f21dc6d66c143
https://doi.org/10.1002/mdc3.13544
https://doi.org/10.1002/mdc3.13544
Publikováno v:
Clinical Autonomic Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa10e4d32953097495604c9959896cc0
https://doi.org/10.1007/s10286-023-00941-1
https://doi.org/10.1007/s10286-023-00941-1