Results 111 to 120 of about 21,341,984 (280)

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]

, 2010
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane, Schimpf Simone, Bernd Wissinger, Zrenner, Eberhart, Alavi, M.V., Schimpf, Simone, Auburger Georg, Zrenner, E., Zrenner Eberhart, Schimpf, S., Alavi-Khorassani Moghadam, Marcel Victor, Auburger, Georg, Leo-Kottler, Beate, Marcel V Alavi, Wissinger, Bernd, Christiane Alexander, Nico Fuhrmann, Wissinger, B., Fuhrmann Nico, Beate Leo-Kottler, Alexander, Christiane, Kamenisch, York, Fuhrmann, Nico, Kamenisch, Y., Wissinger Bernd, Auburger, G., Simone Schimpf, Eberhart Zrenner, Georg Auburger, Kamenisch York, York Kamenisch, Alexander, C., Leo-Kottler, B., Leo-Kottler Beate, Alavi Marcel V, Fuhrmann, N.   +35 more
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Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Insulin resistance and exendin-4 treatment for multiple system atrophy.

, 2017
International audienceMultiple system atrophy is a fatal sporadic adult-onset neurodegenerative disorder with no symptomatic or disease-modifying treatment available.
Kapogiannis, Dimitrios, Vital, Anne, Li, Yazhou, Gulyani, Seema, Canron, Marie-Hélène, Dimitrios Kapogiannis, Bezard, Erwan, Wassilios G Meissner, Pierre-Olivier Fernagut, Greig, Nigel H, Fernagut, Pierre-Olivier, Fares Bassil, Nigel H Greig, Bassil, Fares, Seema Gulyani, Anne Vital, Meissner, Wassilios G, Marie-Hélène Canron, Erwan Bezard, Yazhou Li   +19 more
core   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

in Multiple System Atrophy

, 2020
Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disease with limited symptomatic treatment options. Aggregation of α-synuclein in oligodendrocytes is believed to be a central mechanism of the neurodegenerative process. PD01A and PD03A
Volc, Dieter, Kutzelnigg, Alexandra, Wassilios G. Meissner, Rossella Medori, Péran, Patrice, Monique Galitzky, Vergnet, Sylvain, VERGNET, S., PERAN, P., Patrice Péran, Werner Poewe, Staffler, Günther, Medori, Rossella, GALITZKY, M., MEISSNER, Wassilios, Poewe, Werner, RASCOL, O., Galitzky, Monique, STAFFLER, G., TRAON, A. P., Dieter Volc, SAMIER FOUBERT, Alexandra, MEDORI, R., KUTZELNIGG, A., GALABOVA, G., Alexandra Foubert‐Samier, Sabatini, Umberto, Gergana Galabova, Olivier Rascol, LUHRS, P., Anne Pavy‐Le Traon, SABATINI, U., POEWE, W., SCHNEEBERGER, A., VOLC, D., LAURENS, B., Pavy-Le Traon, Anne, Foubert-Samier, Alexandra, Achim Schneeberger, Brice Laurens, Sylvain Vergnet, Petra Lührs, Günther Staffler, Rascol, Olivier J., Alexandra Kutzelnigg, Lührs, Petra, Umberto Sabatini, Rascol, Olivier, INVESTIGATORS, A. F. F. Study, Galabova, Gergana, Schneeberger, Achim, Laurens, Brice   +51 more
core   +1 more source

Long‐Term Neurologic Exam Findings in People Diagnosed and Treated During Acute HIV Infection

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Evaluate clinical and laboratory correlates of abnormal neurologic exam findings after acute HIV infection (AHI). Methods Participants from the RV254/SEARCH 010 cohort in Bangkok underwent standardized neurologic examinations at Weeks 0 (AHI), 12, 96, and 288 following antiretroviral therapy (ART).
Kathryn B. Holroyd, Tyler Hamby, Carlo Sacdalan, Somchai Sriplienchan, Pathariya Promensa, Luxenaree Poonpitak, Netsiri Dumrongpisutikul, Eugène Kroon, Sandhya Vasan, Robert Paul, Ferron O'Campo, Lydie Trautmann, Phillip Chan, Serena Spudich, on behalf of the RV254/SEARCH 010 Study Team, Julie Ake, Sandhya Vasan, Lydie Trautmann, Merlin Robb, Trevor Crowell, Donn Colby, Diane Bolton, Shelly Krebs, Leigh Ann Eller, Morgane Rolland, Rasmi Thomas, Dominic Paquin Proulx, Suteeraporn Pinyakorn, Tyler Hamby, Mark de Souza, Ellen Turk, Amber Moodley, Gerald Quarles, Jintanat Ananworanich, Denise Hsu, Victoria Polonis, Nelson Michael, Sheila Peel, COL Eric Garges, Alexandra Schuetz, Siriwat Akapirat, Bessara Nantapinit, Pornsuk Visudhiphan, Saowanit Getchalarat, Nampueng Churikanont, Sangsulee Thamakaison, Somchai Sriplienchan, Carlo Sacdalan, Pathariya Promsena, Luxe‐naree Poonpitak, Eugene Kroon, Nitiya Chomchey, Jintana Intasan, Varaporn Pothipala, Ferron Ocampo, Nittaya Phanuphak, Nipat Teeratakulpisan, Yuwaree Pichitchok, Anchalee Avihingsanon, Opass Putcharoen, Kiat Ruxrungtham, Thanyawee Puthanakit, Sopark Manasnayakorn, Phandee Watanaboonyongcharoen, Rungsun Rerknimitr, Irini Sereti, Daniel Douek, Eli Bortiz, Frank Maldarelli, Mary Kearney, Serena Spudich, Phillip Chan, Lishomwa Ndhlovu, Guinevere Li, Michael Corley, Victor Valcour, Peter Hunt, Jacob Estes, Afam Okoye, Jeff Lifson, Claire Deleage, Nicolas Chomont, Andres Finzi, Lyle McKinnon, Henrik Zetterberg, Robert Siliciano, Robert Paul, Julie Mannarino, Jonathan Li, John Mellors, Josh Cytkor, Dan Barouch, Michael Seaman, Boris Juelg, Alex Shalek, Timothy Schacker, Ashley Haase, Mario Stevenson, Wenjun Li, Arthur Kim, Sharon Lewin, Adam Carrico, Susana Valente, Fred Hutchinson, Josh Schiffer, Guido Ferrari, Beau Ances, Alberto Bosque, Katharine Bar, Killian Pohl, David Ho, Yaoxing Huang, Michael Busch, Mohamed Abdel‐Mohsen, Johanna Gostner, Brian Agan, Fatah Kashanchi, Greg Laird, Kathryn Holroyd   +118 more
wiley   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Walsh & Hoyt: Multiple System Atrophy

, 2005
The term multiple system atrophy (MSA) was introduced by Graham and Oppenheimer to describe a neurologic condition previously described as Shy-Drager syndrome (SDS), olivopontocerebellar atrophy (OPCA), or striatonigral degeneration (SND), depending on ...
Parashkev Nachev, PhD, MRCP(UK); Christopher Kennard, PhD, FRCP, FMed Sci
core  

Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali, Priyanka Menon, Halil I. Corbali, Ram Jagannathan, Allan I. Levey   +4 more
wiley   +1 more source

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source