Results 231 to 240 of about 5,194,122 (262)

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

Case Report: A case of focal segmental glomerulosclerosis in Wilson's disease induced by penicillamine. [PDF]

Front Med (Lausanne)
Li Q, Yang L, Zheng X, Zhang Y.
europepmc   +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

Renal Impairment in Wilson's Disease. [PDF]

Kidney Int Rep
Zheng ZW, Xu MH, Fan LN, Wang RM, Xu WQ, Yang GM, Guo LY, Liu C, Dong Y, Wu ZY.   +9 more
europepmc   +1 more source

A functional seizure case in Wilson's disease. [PDF]

Epilepsy Behav Rep
D'Andrea L, Mosqueira R, Filho ACM, Marchetti RL.   +3 more
europepmc   +1 more source

A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children. [PDF]

Medicine (Baltimore)
Yaldany M, Abboud F, Haddad S, Madanieh S, Mahmod J, Alhazaimeh M, Atoom G.   +6 more
europepmc   +1 more source

Preclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease. [PDF]

Clin Mol Hepatol
Wang Z, Wang M, Wu M, Ye L, Lou T, Sun X, Zhao W, Liu F, Ren T, Li W, Fan JG.   +10 more
europepmc   +1 more source

Genetic findings in ten Ecuadorian patients with suspected Wilson's disease. [PDF]

Hum Genomics
Romero VI, Armas Samaniego M, León P, Arias-Almeida B, Sasaki R, Iwauchi Y, Hosomichi K.   +6 more
europepmc   +1 more source

Wilson's Disease Coexisting with Narcolepsy Type 1: Evidence for a Multifactorial Cause of Excessive Daytime Sleepiness from a Case Report. [PDF]

Neurol Ther
Xu Z, Wang Y, Xu C, Hou Z, Yang W.
europepmc   +1 more source

Adult‐Onset Dystonia Related to PRKRA (DYT16): A Predictor of Favorable Deep Brain Stimulation Outcome

Movement Disorders Clinical Practice, EarlyView.
Ingrid Lorena da Silva Gomes, Eduardo Drews Amorim, Juan Sebastián Sánchez León, Thomas Hugentobler Schlickmann, Yuri Ferreira Felloni Borges, Artur Francisco Schumacher Schuh, Daniel Teixeira‐dos‐Santos, Sheila Trentin, Thais Lampert Monte, Bruno Samuel Fraiman de Oliveira   +9 more
wiley   +1 more source