Results 321 to 330 of about 1,506,824 (383)

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

, 1995
Matthias Vorgerd, Sigrid Fuchs, Martin Tegenthoff, J.‐P. Malin   +3 more
openalex   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders, EarlyView.
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian, Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D'Arco, Sajjad Biglari, Pooneh Nikuei, Joseph G. Gleeson, Meriem Tazir, Lamia Ali Pacha, Henry Houlden   +11 more
wiley   +1 more source

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35. [PDF]

J Biol Chem
Aguila A, Salah S, Kulasekaran G, Shweiki M, Shaul-Lotan N, Mor-Shaked H, Daana M, Harel T, McPherson PS.   +8 more
europepmc   +1 more source

Central Diabetes Insipidus Associated with a Missense Mutation in the Arginine Vasopressin Gene that Replaces Ala at the Carboxyterminus of the Signal Peptide with Thr.

, 1998
Akiko Kawakami, Yasuyuki Okamoto, Tsunehiko Yamamoto, Youichi Tatsumi, Takami Miki, Shiro Tanaka, Satoru Fujii   +6 more
openalex   +2 more sources

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha‐Synuclein‐Gene‐Associated Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abigail Braun, Dion Basson, Shahida Moosa, Jonathan Carr, Soraya Bardien, Riaan van Coller   +5 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders, EarlyView.
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen, Pilar Alvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker, Kamran Salayev, Sughra Guliyeva, Kimberley J. Billingsley, Henry Houlden, Andrew B. Singleton, Cornelis Blauwendraat, Sara Bandres‐Ciga, Rauan Kaiyrzhanov   +13 more
wiley   +1 more source

PON-Tm: A Sequence-Based Method for Prediction of Missense Mutation Effects on Protein Thermal Stability Changes. [PDF]

Int J Mol Sci
Kuang J, Zhao Z, Yang Y, Yan W.
europepmc   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source

Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2

Movement Disorders Clinical Practice, EarlyView.
Phuong T. Hoang, Ian O. Bledsoe, Marta San Luciano   +2 more
wiley   +1 more source