Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

D Ebrahimi-Fakhari, A Saffari, L Wahlster, J Lu, S Byrne… - Brain, 2016 - academic.oup.com
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group
of multisystem diseases in children. Clinically, these disorders prominently affect the central …

Hereditary spastic paraplegias: an update

C Depienne, G Stevanin, A Brice… - Current opinion in …, 2007 - journals.lww.com
Hereditary spastic paraplegias: an update : Current Opinion in Neurology Hereditary spastic
paraplegias: an update : Current Opinion in Neurology Log in or Register Subscribe to …

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

G Stevanin, FM Santorelli, H Azzedine, P Coutinho… - Nature …, 2007 - nature.com
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum
(TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to …

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

G Stevanin, H Azzedine, P Denora, A Boukhris, M Tazir… - Brain, 2008 - academic.oup.com
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs …

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

F Pérez-Brangulí, HK Mishra, I Prots… - Human molecular …, 2014 - academic.oup.com
Hereditary spastic paraplegias are a group of inherited motor neuron diseases
characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia …

Whole brain‐based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging

A Unrath, HP Müller, A Riecker… - Human brain …, 2010 - Wiley Online Library
Different motor neuron disorders (MNDs) are mainly defined by the clinical presentation
based on the predominance of upper or lower motor neuron impairment and the course of …

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

U Hehr, P Bauer, B Winner, R Schule… - Annals of Neurology …, 2007 - Wiley Online Library
Abstract Objective Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group
of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One …

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

P Hedera, OP Eldevik, P Maly, S Rainier, JK Fink - Neuroradiology, 2005 - Springer
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of
neurodegenerative disorders characterized by progressive lower extremity weakness and …

Hereditary spastic paraplegia: clinical genetic study of 15 families

A Orlacchio, T Kawarai, A Totaro, A Errico… - Archives of …, 2004 - jamanetwork.com
Background Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused
by mutations in theSPG4gene, which encodes a new member of the AAA (adenosine …

Наследственные атаксии и параплегии

СН Иллариошкин, ГЕ Руденская… - 2006 - elibrary.ru
Настоящая книга представляет собой первую в отечественной литературе
монографию, посвященную чрезвычайно гетерогенной группе наследственных …