Results 211 to 220 of about 202,059 (264)

Clinical and Pathological Features of CSF1R-Related Disorder Associated With the p.R777Q Pathogenic Variant. [PDF]

J Mov Disord
Chmiela T, Liskey D, Strongosky AJ, McCarter SJ, Sandroni P, Dickson DW, Wszolek ZK.   +6 more
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Mixed Movement Disorder Caused by <i>ADCY5</i> Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine. [PDF]

Case Rep Neurol Med
Tsoma E, Studeniak T, Jech R, Zech M, Havrankova P, Růžička E, Kunc L, Chomolyak Y.   +7 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations. [PDF]

Mol Genet Genomic Med
Taha I, Minelli A, Danesino C, Swalmeh A, Huraibat K, Al-Labadi L, Obar R, Beshtawi KR, Samrah LA, Mohammad YA, Farah A, Obar A, Khalaf M, Nasser O.   +13 more
europepmc   +1 more source

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation. [PDF]

Int J Dermatol
Hercent A, Borgel A, Lamoril J, Grange F, Carré-Pigeon F, Kannengiesser C, Tchernitchko D.   +6 more
europepmc   +1 more source

Case Report: Novel <i>MAGT1</i> pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections. [PDF]

Front Immunol
Gunderman L, Ptak CP, Schutt M, Yahashiri K, Lippner E, Khojah A, Ahmed A, Khanolkar A.   +7 more
europepmc   +1 more source

The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A. [PDF]

Prenat Diagn
Hamill C, Goergen S, Fahey M, Roscioli T, Gorrie A, Curd H, Gelfand N.   +6 more
europepmc   +1 more source

Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]

Mol Genet Metab Rep
Aguirre-Guillen RL, Arredondo-Navarro LÁ, Hernández-Rodríguez MF, Eduardo MT, Del Rosario CPM, Arce-Lozoya MA, Ochoa-Padilla E, Rodríguez-Machuca VU.   +7 more
europepmc   +1 more source

Short-term hormonal modulation with mifepristone does not induce oncogenic changes in the endometrium of BRCA1/2 pathogenic variant carriers. [PDF]

Commun Med (Lond)
Widschwendter M, Herzog C, Rasul MF, Boggavarapu NR, Redl E, Utjés D, Flöter Rådestad A, Gemzell-Danielsson K, Alkasalias T.   +8 more
europepmc   +1 more source