Results 211 to 220 of about 5,456,377 (265)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]

Radiol Case Rep
El Aouadi S, Bahha S, Taibi O, Bouanane R, Allali N, Chat L, El Haddad S.   +6 more
europepmc   +1 more source

Clinical Spectrum of Anti-SEZ6L2 Syndrome: A Case Report With Brain Volumetry and Systematic Literature Review. [PDF]

Neurol Neuroimmunol Neuroinflamm
Habicht JL, Cammá G, Wurdack K, Teegen B, Prüss H, Finke C.   +5 more
europepmc   +1 more source

Multiple Spontaneous CSF Leaks in a Patient With Turner Syndrome: A Case Study. [PDF]

Clin Case Rep
Podolny AL, Kennedy CL, Adams ME, Venteicher AS.   +3 more
europepmc   +1 more source

Correction: Effects of DRG pulsed radiofrequency parameters on the clinical outcome for battered sensory never syndrome: a prospective, triple-blind, randomized controlled trial. [PDF]

Sci Rep
Wang Q, Hu R, Han R, Ni Y, Zhou H, Huang D, Huang Y, Deng Q.   +7 more
europepmc   +1 more source

A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
Chiara Veredice, Chiara Arpaia, Ilaria Contaldo, Anna Capasso, Donato Rigante   +4 more
wiley   +1 more source

Severe Pediatric Snakebite With Coagulopathy and Compartment Syndrome: Conservative Management With Plasma Exchange. [PDF]

Clin Case Rep
Al Muqbel ZM, Al-Majmuei A, Haider Ali A, Fahad NY, Ajjawi R, Al Dailami A, Lone A, Al Maskati M, Mohamed Mansoor N.   +8 more
europepmc   +1 more source

Reply to: A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Adeseye, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source