Results 131 to 140 of about 1,802 (202)

Fractures beyond spasms: Progressive encephalomyelitis with rigidity and myoclonus associated with GABA-linked bone fragility. [PDF]

eNeurologicalSci
Shibahara T, Kuroda J, Nakane H, Ago T.
europepmc   +1 more source

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
Forsyth RJ, Ginjaar I, Gika AD, Tijssen MAJ   +3 more
core  

Anti-dipeptidyl-peptidase-like protein-6 (DPPX) autoimmune encephalitis associated with severe multifocal dystonia. [PDF]

Clin Park Relat Disord
Roddy E, Gentry E, Holiday V, Robertson D, Hedera P.   +4 more
europepmc   +1 more source

Congenital abnormalities in Pacific Island Countries and Territories: a scoping review. [PDF]

BMC Public Health
Kitchener E, Thurecht R, Mackrill J, Dixson B, Kafer G.   +4 more
europepmc   +1 more source

Clinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review. [PDF]

Neurol Neuroimmunol Neuroinflamm
Li EC, Zhang TY, Cai MT, Su SY, Shen CH, Lai QL, Zhang YX.   +6 more
europepmc   +1 more source

Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency. [PDF]

Mov Disord Clin Pract
Pollini L, Greco C, Novelli M, Mei D, Pisani F, De Koning-Tijssen MAJ, Guerrini R, Leuzzi V, Galosi S.   +8 more
europepmc   +1 more source

Neuropsychiatric Presentation of Anti-DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus. [PDF]

Mov Disord Clin Pract
Neo RJ, Mehta AR, Weston M, Magrinelli F, Quattrone A, Gandhi S, Joyce EM, Bhatia KP.   +7 more
europepmc   +1 more source

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient. [PDF]

J Clin Immunol
Ochoa S, Waters P, Vieillard E, Soldatos A, Leite MI, Lionakis MS.   +5 more
europepmc   +1 more source

Progressive Muscle Rigidity and Spasms in an Older Adult: A Diagnostic Challenge. [PDF]

Cureus
Leonard SD, Tran HT.
europepmc   +1 more source

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the <i>GRIA3</i> Gene. [PDF]

Children (Basel)
Rubino A, Bruno G, Errichiello G, Acquaviva F, De Brasi D, Tirozzi A, Santangelo P, Russo C, Varone A, Zito Marinosci G, Bernardo P.   +10 more
europepmc   +1 more source