Results 221 to 230 of about 5,188,381 (253)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Consistency of Serial Cerebrospinal Fluid α‐Synuclein Seed Amplification Assay Results in the Parkinson's Precision Medicine Initiative

Movement Disorders, EarlyView.
Abstract Background Studies reporting α‐synuclein seed amplification assay (aSyn‐SAA) results are often cross‐sectional. Objectives In this study, we investigated the intraindividual consistency of aSyn‐SAA results (Amprion) over time from participants in the Parkinson's Precision Medicine Initiative (PPMI).
David G. Coughlin, Caroline Gochanour, Jie Yin, Luis Concha‐Marambio, Carly Farris, Yihua Ma, David‐Erick Lafontant, Edwin Jabbari, Tanya Simuni, Ken Marek, Thomas F. Tropea, the Parkinson's Precision Medicine Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Sebastian Schade, Douglas Galasko, Anat Mirelman, Roy Alcalay, Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber   +77 more
wiley   +1 more source

Proximal myopathy in an untreated case of Wilson's disease - A case report. [PDF]

Hepatol Forum
James A, Bang A, Jain S, Khare P, Meshram H, Madhura A, Girish M.   +6 more
europepmc   +1 more source

Clinical Determinants and Prognostic Impact of Delayed Diagnosis in Wilson's Disease. [PDF]

Diagnostics (Basel)
Antos A, Niewada M, Kraiński Ł, Członkowska A.   +3 more
europepmc   +1 more source

Mechanisms and impacts of future plant invasions: research agendas and management needs under disruptive social‐ecological change scenarios

Oikos, EarlyView.
No‐analogue futures are characteristic of the Anthropocene, but how global change, and societies' responses, will affect plant invasions remains unclear. Conducting research now to address future needs is crucial for guiding invasion management and policy.
Jennifer L. Bufford, Angela J. Brandt, Rowan Sprague, Christopher E. Buddenhagen, Richard P. Duncan, Nichola Harcourt, Philip E. Hulme, Hao Ran Lai, Kate G. McAlpine, Chris McGrannachan, Fiona J. Thomson, Vincent van Uitregt, Duane A. Peltzer   +12 more
wiley   +1 more source

AI-enhanced genomic interpretation in Wilson's disease: a step toward earlier detection. [PDF]

Ann Med Surg (Lond)
Aminpoor H, Khizar M, Zaib M, Karimi H, Khan M.   +4 more
europepmc   +1 more source

Increased extracellular volume, reduced stress perfusion, and worse systolic function in Wilson's disease. [PDF]

J Cardiovasc Magn Reson
Steffen Johansson R, Fogarasi C, Kellman P, Kindmark A, Nickander J.   +4 more
europepmc   +1 more source

Evaluation of salivary ceruloplasmin for the diagnosis of Wilson's disease. [PDF]

Sci Rep
Zhang N, Wu L, Jiang P, Ji Z, Yin M, Zhou H, He L, Xia Z, Wang F, Xiao X, Han H.   +10 more
europepmc   +1 more source

Wilson's Disease Psychosis in a Young Man With Autism Spectrum Disorder: A Case Report and Focus on Management. [PDF]

HCA Healthc J Med
Sowell LC, Gracious BL.
europepmc   +1 more source

Identification of miRNAs Expression Characteristics and Biomarkers in Serum-Derived Exosomes of Wilson's Disease Patients. [PDF]

Mediators Inflamm
Chen H, Wang X, Ma Y, Pu Y, Ye H, Zhang J.   +5 more
europepmc   +1 more source