Results 301 to 310 of about 12,436,746 (396)

Family history of bruxism: a case-control study based on the ecological momentary assessment of awake bruxism. [PDF]

J Oral Facial Pain Headache
Saracutu OI, Pollis M, Guarda-Nardini L, Bracci A, Manfredini D.   +4 more
europepmc   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Incomplete Family History and Meeting Algorithmic Criteria for Genetic Evaluation of Hereditary Cancer.

JAMA Netw Open
Harris A, Bather JR, Bradshaw RL, Kawamoto K, Del Fiol G, Kohlmann WK, Chavez-Yenter D, Monahan R, Chambers RL, Sigireddi M, Goodman MS, Kaphingst KA.   +11 more
europepmc   +1 more source

Prostate cancer in men under 50: the impact of race/ethnicity and family history. [PDF]

Ann Med
Chen L, Zhang Y, Meng QH.
europepmc   +1 more source

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

Familial hemiplegic migraine, epilepsy, and a suspicion of intracranial hypertension in a patient with a positive family history. [PDF]

Arch Med Sci
Grodzka O, Chądzyński P, Makulec A, Domitrz I.   +3 more
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Remimazolam as an Adjunct to General Anesthesia During Surgery for Congenital Heart Disease in a Pediatric Patient With a Family History of Malignant Hyperthermia. [PDF]

J Med Cases
Blansky B, McKee C, Tobias JD.
europepmc   +1 more source